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: PA2827131695

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785824

ClinVar RCV Id: RCV002424136

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Gln389Glu	CA366738002 NM_001322012.1:c.1165C>G