Canonical Allele Identifier: PA2827125701
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230486
ClinVar RCV Id: RCV000217218 RCV000222472 RCV000530024 RCV000764718 RCV001249991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Ala730Thr
CA048880
NM_001322009.2:c.2188G>A