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: PA117163

Gene: PRKCH HGNC NCBI

Linked Data

ClinVar Variation Id: 4991

ClinVar RCV Id: RCV000005279

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006246.2:p.Val374Ile	CA117162 NM_006255.5:c.1120G>A