Canonical Allele Identifier: PA2827131972
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718027
ClinVar RCV Id: RCV003595249
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Ser462Arg
CA366736012
NM_001322012.1:c.1386T>G
CA366736014
NM_001322012.1:c.1386T>A
CA366736025
NM_001322012.1:c.1384A>C