Canonical Allele Identifier: PA2827115382
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127758
ClinVar RCV Id: RCV000115655 RCV000228417 RCV000565134 RCV003467051 RCV003415890
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Arg375Cys
CA009466
NM_001322006.2:c.1123C>T