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: PA2580572703

Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420781

ClinVar RCV Id: RCV003121946

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_998764.1:p.Ser331Thr	CA379920877 NM_213599.3:c.991T>A