Canonical Allele Identifier: PA915982293
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 196428
ClinVar RCV Id: RCV000177249 RCV000660269 RCV001051988 RCV001251412 RCV003995689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138574.1:p.Pro42Leu
CA020087
NM_001145102.2:c.125C>T