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: PA2827123394

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2566073

ClinVar RCV Id: RCV003306367 RCV003759807

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Pro241Ala	CA366742752 NM_001322009.2:c.721C>G