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: CA2604106454

Gene:

Linked Data

dbSNP Id: rs1799053423

gnomAD v3: 4-122590088-AT-A

gnomAD v4: 4-122590088-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122590095del , CM000666.2:g.122590095del	GRCh38
NC_000004.11:g.123511250del , CM000666.1:g.123511250del	GRCh37
NC_000004.10:g.123730700del	NCBI36

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