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: CA918364178

Gene:

Linked Data

dbSNP Id: rs1563707369

gnomAD v3: 8-127505177-AC-A

gnomAD v4: 8-127505177-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127505180del , CM000670.2:g.127505180del	GRCh38
NC_000008.10:g.128517425del , CM000670.1:g.128517425del	GRCh37
NC_000008.9:g.128586607del	NCBI36

Search 100 bp 5'

Search 100 bp 3'