Canonical Allele Identifier: PA916025974
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 186044
ClinVar RCV Id: RCV000165566 RCV000513405 RCV000662642 RCV001193214 RCV003150024 RCV003483538 RCV003995430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ala572Thr
CA010143
NM_001322014.1:c.1714G>A