Canonical Allele Identifier: PA2827138897
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484283
ClinVar RCV Id: RCV000570769 RCV000797970 RCV000662598 RCV001591337
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Ile594Val
CA366738020
NM_001322015.1:c.1780A>G