Canonical Allele Identifier: PA2827099040
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127754
ClinVar RCV Id: RCV000115651 RCV000229947 RCV000212859 RCV001030722 RCV001199850 RCV003467050 RCV003997284 RCV003421993
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Ala255Val
CA009271
NM_001322003.2:c.764C>T