Allele Registry

Canonical Allele Identifier: PA915982353

Gene: SMAD3 HGNC NCBI

ClinVar Allele:

39267

ClinVar RCV:

RCV000023246

RCV001703421

RCV003528136

ClinVar Variation:

30311

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138576.1:p.Glu44Lys	CA020100 NM_001145104.2:c.130G>A