Canonical Allele Identifier: PA2827137389
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91377
ClinVar RCV Id: RCV000076896 RCV000215563 RCV000255696 RCV000524483 RCV000778110 RCV001804828
ClinVar Variation Id: 2673909
ClinVar RCV Id: RCV003450525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Lys198Asn
CA013203
NM_001322015.1:c.594G>T
CA366743397
NM_001322015.1:c.594G>C