Canonical Allele Identifier: PA2827130143
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 220740
ClinVar RCV Id: RCV000204089 RCV000662637 RCV000568777 RCV000764721 RCV001328413 RCV001753620 RCV003150094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Pro483Ser
CA348346
NM_001322011.2:c.1447C>T