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: PA2827118136

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504952

ClinVar RCV Id: RCV002047937 RCV002458980

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Gly276Arg	CA042158 NM_001322007.2:c.826G>C