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: PA2827133897

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2848013

ClinVar RCV Id: RCV003758544

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001308942.1:p.Ser448Thr