Canonical Allele Identifier: PA2827129256
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411046
ClinVar RCV Id: RCV000471818 RCV001012607 RCV003227761 RCV004001876
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Gly248Arg
CA045058
NM_001322011.2:c.742G>A
CA366741251
NM_001322011.2:c.742G>C