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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:
CA345989277
Gene: APOB
HGNC
NCBI
Linked Data
gnomAD v4:
2-21007214-A-T
MyVariant Identifiers:
chr2:g.21230086A>T (hg19)
chr2:g.21007214A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21007214A>T , CM000664.2:g.21007214A>T
GRCh38
NC_000002.11:g.21230086A>T , CM000664.1:g.21230086A>T
GRCh37
NC_000002.10:g.21083591A>T
NCBI36
NG_011793.1:g.41860T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000233242.5:c.9654T>A
MANE Select
ENSP00000233242.1:p.Phe3218Leu
ENST00000616098.4:c.9654T>A
ENSP00000477990.1:p.Phe3218Leu
NM_000384.2:c.9654T>A
NP_000375.2:p.Phe3218Leu
XM_011532809.1:c.5869+3519T>A
XP_011531111.1:n.5869+3519T>A
NM_000384.3:c.9654T>A
MANE Select
NP_000375.3:p.Phe3218Leu
Search 100 bp 5'
Search 100 bp 3'