Canonical Allele Identifier: PA2827124973
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 192316
ClinVar RCV Id: RCV000172908 RCV000630142 RCV001284205 RCV001179765 RCV001804905 RCV003454446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Ile533Val
CA358701
NM_001322009.2:c.1597A>G