Allele Registry

Canonical Allele Identifier: PA346667

Gene: SMAD3 HGNC NCBI

ClinVar RCV:

RCV000157503

RCV000547199

RCV003998342

ClinVar Variation:

180526

HGVS (amino-acid)	Matching Registered Transcripts
NP_005893.1:p.Val377Ile	CA020043 NM_005902.4:c.1129G>A