Allele Registry

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.

Canonical Allele Identifier: CA963339676

Gene:

Linked Data

dbSNP Id: rs2040615812

gnomAD v3: 14-54904756-T-C

gnomAD v4: 14-54904756-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54904756T>C , CM000676.2:g.54904756T>C	GRCh38
NC_000014.8:g.55371474T>C , CM000676.1:g.55371474T>C	GRCh37
NC_000014.7:g.54441224T>C	NCBI36
NG_008647.1:g.3069A>G

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