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: PA916043437

Gene: AHCY HGNC NCBI

Linked Data

ClinVar Variation Id: 235681

ClinVar RCV Id: RCV000223995 RCV001267457

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349679.1:p.Pro98Leu	CA9821059 NM_001362750.2:c.293C>T