Canonical Allele Identifier: PA916025701
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233592
ClinVar RCV Id: RCV000219397 RCV000480173 RCV000541065 RCV001249242 RCV001798722 RCV003998566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Pro338Ala
CA10578688
NM_001322014.1:c.1012C>G