Canonical Allele Identifier: PA2827133652
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 183997
ClinVar RCV Id: RCV000163099 RCV000199342 RCV000410142 RCV000512920 RCV000781750 RCV003149997 RCV003407602 RCV003995234
ClinVar Variation Id: 819916
ClinVar RCV Id: RCV001012858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Thr382Ser
CA010161
NM_001322013.1:c.1144A>T
CA366740187
NM_001322013.1:c.1145C>G