Canonical Allele Identifier: PA2827138907
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 140847
ClinVar RCV Id: RCV000129052 RCV000234750 RCV000214144 RCV003389702 RCV003453059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Asp596His
CA010800
NM_001322015.1:c.1786G>C