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: CA995737458

Gene:

Linked Data

dbSNP Id: rs1976344983

gnomAD v3: 19-38646056-T-TC

gnomAD v4: 19-38646056-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38646060dup , CM000681.2:g.38646060dup	GRCh38
NC_000019.9:g.39136700dup , CM000681.1:g.39136700dup	GRCh37
NC_000019.8:g.43828540dup	NCBI36
NG_007082.2:g.3374dup

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