Allele Registry

Canonical Allele Identifier: PA915982431

Gene: SMAD3 HGNC NCBI

ClinVar Allele:

178706

ClinVar RCV:

RCV000157501

RCV000197902

RCV000660271

RCV001198563

RCV001798527

ClinVar Variation:

180524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138576.1:p.Arg92Gln	CA020135 NM_001145104.2:c.275G>A