Allele Registry

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Canonical Allele Identifier: PA2827132867

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_001308942.1:p.Ser182Arg	CA16612141 NM_001322013.1:c.546T>G CA16618517 NM_001322013.1:c.544A>C CA366742768 NM_001322013.1:c.546T>A