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: CA963342872

Gene:

Linked Data

dbSNP Id: rs2040649754

gnomAD v3: 14-54912356-ACC-A

gnomAD v4: 14-54912356-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54912359_54912360del , CM000676.2:g.54912359_54912360del	GRCh38
NC_000014.8:g.55379077_55379078del , CM000676.1:g.55379077_55379078del	GRCh37
NC_000014.7:g.54448827_54448828del	NCBI36

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