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: PA916039383

Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36175

ClinVar RCV Id: RCV000029838 RCV002463593

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341732.1:p.Ser53Phe	CA213713 NM_001354803.2:c.158C>T