Canonical Allele Identifier: PA2827130639
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185424
ClinVar RCV Id: RCV000164844 RCV000206128 RCV000433523 RCV000987833 RCV002485018 RCV001358227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Arg116His
CA009478
NM_001322012.1:c.347G>A