Canonical Allele Identifier: PA2827134142
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91328
ClinVar RCV Id: RCV000076843 RCV000144654 RCV000115674 RCV000223542 RCV000524457 RCV002298464 RCV003149756 RCV003452990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Glu514Lys
CA010854
NM_001322013.1:c.1540G>A