Canonical Allele Identifier: PA916026158
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41709
ClinVar RCV Id: RCV000034624 RCV000115676 RCV000199450 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Val717Met
CA010907
NM_001322014.1:c.2149G>A