Canonical Allele Identifier: PA2827107559
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91313
ClinVar RCV Id: RCV000216706 RCV000524448 RCV001529737 RCV003997188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Leu450Ile
CA010216
NM_001322004.2:c.1348C>A