Canonical Allele Identifier: PA2827126146
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455741
ClinVar RCV Id: RCV000556803 RCV000564413 RCV000781740 RCV001568558 RCV004003768 RCV003338645
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Cys117Tyr
CA051535
NM_001322010.2:c.350G>A