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: PA2827098930

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087190

ClinVar RCV Id: RCV003009438 RCV004068511

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Pro241Leu	CA366742749 NM_001322003.2:c.722C>T