Canonical Allele Identifier: PA2827137278
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141523
ClinVar RCV Id: RCV000130089 RCV000411073 RCV000486746 RCV001079273 RCV002265615 RCV003997548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Gln172Glu
CA012928
NM_001322015.1:c.514C>G