Canonical Allele Identifier: PA2827121080
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141163
ClinVar RCV Id: RCV000129553 RCV000696062 RCV000765967 RCV001753510 RCV003460895 RCV003997509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Thr59Ile
CA012165
NM_001322008.2:c.176C>T