Canonical Allele Identifier: PA2827132745
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233592
ClinVar RCV Id: RCV000219397 RCV000480173 RCV000541065 RCV001249242 RCV001798722 RCV003998566
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Pro147Ala
CA10578688
NM_001322013.1:c.439C>G