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: PA916024855

Gene: PSTPIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242299

ClinVar RCV Id: RCV000231124 RCV001514746 RCV002262843 RCV002518394

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308066.1:p.Cys78Gly	CA7675687 NM_001321137.1:c.232T>G