Canonical Allele Identifier: PA2827122829
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187347
ClinVar RCV Id: RCV000167069 RCV000226423 RCV000454673 RCV001753568 RCV003995554
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Ser349Phe
CA009556
NM_001322008.2:c.1046C>T