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: PA2825809640

Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 597562

ClinVar RCV Id: RCV000733727 RCV003768234

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136121.1:p.Trp638Arg	CA218774123 NM_001142649.2:c.1912T>C CA379923261 NM_001142649.2:c.1912T>A