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: PA2827098961

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 818389

ClinVar RCV Id: RCV001064908 RCV001009940 RCV004004479 RCV003478606

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Asp244Val	CA153230500 NM_001322003.2:c.731A>T