Canonical Allele Identifier: PA2827135851
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411081
ClinVar RCV Id: RCV002230442
ClinVar Variation Id: 419694
ClinVar RCV Id: RCV000482121 RCV003278828
ClinVar Variation Id: 525728
ClinVar RCV Id: RCV000629966 RCV002438640 RCV003459493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ser373Arg
CA16612141
NM_001322014.1:c.1119T>G
CA16618517
NM_001322014.1:c.1117A>C
CA366742768
NM_001322014.1:c.1119T>A