Canonical Allele Identifier: PA2827115858
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480321
ClinVar RCV Id: RCV000562900 RCV000796414 RCV002509443 RCV003459301 RCV004000893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Ser493Cys
CA153227998
NM_001322006.2:c.1478C>G