Canonical Allele Identifier: PA2827120444
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135940
ClinVar RCV Id: RCV000132456 RCV000587523 RCV001080776 RCV001263509 RCV003492543
ClinVar Variation Id: 141394
ClinVar RCV Id: RCV000129896 RCV000478617 RCV000662634 RCV001081618 RCV001193855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Arg457Gln
CA010042
NM_001322008.2:c.1370_1371delinsAG
CA010059
NM_001322008.2:c.1370G>A