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: PA2827135174

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 847830

ClinVar RCV Id: RCV001051458 RCV002348399

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Asn176Ile	CA366744168 NM_001322014.1:c.527A>T