Canonical Allele Identifier: PA2827124645
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216455
ClinVar RCV Id: RCV000199546 RCV000218135 RCV001544673 RCV003462329 RCV003491945 RCV003320596
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Arg443His
CA045451
NM_001322009.2:c.1328G>A