Canonical Allele Identifier: PA2827129776
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_001308940.1:p.Asp388His
CA010800
NM_001322011.2:c.1162G>C