Canonical Allele Identifier: PA2827129742
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141651
ClinVar RCV Id: RCV000130250 RCV000222360 RCV000230692 RCV001251272 RCV001798443 RCV003467136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Lys379Gln
CA010772
NM_001322011.2:c.1135A>C