Canonical Allele Identifier: PA916025620
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233032
ClinVar RCV Id: RCV000214977 RCV000537717 RCV001552609 RCV001800570 RCV003469064 RCV003998023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Leu114Phe
CA049251
NM_001322014.1:c.340C>T