Canonical Allele Identifier: PA2827124900
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127768
ClinVar RCV Id: RCV000115668 RCV000195978 RCV000212864 RCV001844040 RCV003997288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Arg511Met
CA010512
NM_001322009.2:c.1532G>T