Canonical Allele Identifier: PA2827130385
Gene: PMS2 HGNC NCBI
ClinVar RCV:
RCV000566001
ClinVar Variation:
484328
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Gly546Arg
CA048891
NM_001322011.2:c.1636G>C