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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA5305843
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs372974294
ExAC:
9:136131673 A / G
gnomAD v2:
9-136131673-A-G
MyVariant Identifiers:
chr9:g.136131673A>G (hg19)
chr9:g.133256286A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256286A>G , CM000671.2:g.133256286A>G
GRCh38
NC_000009.11:g.136131673A>G , CM000671.1:g.136131673A>G
GRCh37
NC_000009.10:g.135121494A>G
NCBI36
NG_006669.1:g.21382T>C
NG_006669.2:g.23930T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.474T>C
ENST00000647353.1:n.54-5134T>C
ENST00000651471.1:n.400T>C
ENST00000679909.1:c.28+18876T>C
ENSP00000506089.1:n.28+18876T>C
ENST00000453660.3:n.456T>C
ENST00000538324.2:c.442T>C
ENSP00000483018.1:p.Tyr148His
ENST00000611156.4:c.442T>C
ENSP00000483265.1:p.Tyr148His
NM_020469.2:c.445T>C
NP_065202.2:p.Tyr149His
NM_020469.3:c.445T>C
NP_065202.2:p.Tyr149His
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