Canonical Allele Identifier: PA2827123033
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41701
ClinVar RCV Id: RCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.His373Gln
CA009671
NM_001322008.2:c.1119C>G
CA366741986
NM_001322008.2:c.1119C>A