Allele Registry

Canonical Allele Identifier: PA2825881370

Gene: SMAD3 HGNC NCBI

ClinVar Allele:

39262

ClinVar RCV:

RCV000023241

RCV000195645

RCV000699559

RCV002276569

ClinVar Variation:

30306

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138575.1:p.Arg243Trp	CA020130 NM_001145103.2:c.727C>T