Allele Registry

Canonical Allele Identifier: PA2825881269

Gene: SMAD3 HGNC NCBI

ClinVar RCV:

RCV000196414

RCV000476029

ClinVar Variation:

213759

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138575.1:p.Glu184Lys	CA320833 NM_001145103.2:c.550G>A