Allele Registry

Canonical Allele Identifier: PA2825881368

Gene: SMAD3 HGNC NCBI

ClinVar Allele:

178706

ClinVar RCV:

RCV000157501

RCV000197902

RCV000660271

RCV001198563

RCV001798527

ClinVar Variation:

180524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138575.1:p.Arg243Gln	CA020135 NM_001145103.2:c.728G>A