Canonical Allele Identifier: PA916025200
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141683
ClinVar RCV Id: RCV000130297 RCV000200665 RCV000212846 RCV000412393 RCV000781748 RCV001356210 RCV003998053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Arg76Gln
CA012455
NM_001322010.2:c.227G>A