ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683888
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs2118940271
MyVariant Identifiers:
chr9:g.136131163G>C (hg19)
chr9:g.133255776G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255776G>C , CM000671.2:g.133255776G>C
GRCh38
NC_000009.11:g.136131163G>C , CM000671.1:g.136131163G>C
GRCh37
NC_000009.10:g.135120984G>C
NCBI36
NG_006669.1:g.21892C>G
NG_006669.2:g.24440C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.984C>G
ENST00000647353.1:n.54-4624C>G
ENST00000679909.1:c.28+19386C>G
ENSP00000506089.1:n.28+19386C>G
ENST00000453660.3:n.966C>G
ENST00000538324.2:c.952C>G
ENSP00000483018.1:p.Leu318Val
ENST00000611156.4:c.952C>G
ENSP00000483265.1:p.Leu318Val
NM_020469.2:c.955C>G
NP_065202.2:p.Leu319Val
NM_020469.3:c.955C>G
NP_065202.2:p.Leu319Val
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