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: PA2499306030

Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007980

ClinVar RCV Id: RCV001305242 RCV003135945

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_998764.1:p.Ile512Val	CA379922243 NM_213599.3:c.1534A>G