Canonical Allele Identifier: PA2827133115
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1931313
ClinVar RCV Id: RCV002645973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Thr248Ala
CA366742351
NM_001322013.1:c.742A>G