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: PA2827134846

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444783

ClinVar RCV Id: RCV003154516

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Asp55Tyr	CA366744943 NM_001322014.1:c.163G>T