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: CA916083169

Gene:

Linked Data

ClinVar Variation Id: 38701

ClinVar RCV Id: RCV001078284

dbSNP Id: rs1847516043

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225389_5226007del , CM000673.2:g.5225389_5226007del	GRCh38
NC_000011.9:g.5246619_5247237del , CM000673.1:g.5246619_5247237del	GRCh37
NC_000011.8:g.5203195_5203813del	NCBI36
NG_000007.3:g.71609_72227del
NG_059281.1:g.6065_6683del

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