Canonical Allele Identifier: PA2827123689
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142561
ClinVar RCV Id: RCV000131757 RCV000198383 RCV000855605 RCV000586259 RCV000987834 RCV001355081 RCV001535477 RCV002275085 RCV003323294
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Val280Met
CA009419
NM_001322009.2:c.838G>A