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: PA2827103328

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1745085

ClinVar RCV Id: RCV002335777

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Arg34Gly	CA366744220 NM_001322004.2:c.100C>G