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: PA916005983

Gene: DDC HGNC NCBI

Linked Data

ClinVar Variation Id: 17809

ClinVar RCV Id: RCV000019387

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229819.2:p.Gly102Ser	CA127442 NM_001242890.2:c.304G>A