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: PA2827119014

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767125

ClinVar RCV Id: RCV003594492

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001308936.1:p.Val499Leu