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: PA2573318093

Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1386328

ClinVar RCV Id: RCV001881412

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_998764.1:p.Met332Ile	CA5923088 NM_213599.3:c.996G>A CA379920888 NM_213599.3:c.996G>C CA379920889 NM_213599.3:c.996G>T