Canonical Allele Identifier: PA2827124414
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185185
ClinVar RCV Id: RCV000164554 RCV000200307 RCV000411039 RCV000486349 RCV000515358 RCV000781744 RCV001798585 RCV003338434 RCV003995349
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Ala385Val
CA009861
NM_001322009.2:c.1154C>T