Allele Registry

Canonical Allele Identifier: PA249848

Gene: SMAD2 HGNC NCBI

ClinVar RCV:

RCV000190697

RCV001789764

ClinVar Variation:

208683

HGVS (amino-acid)	Matching Registered Transcripts
NP_001003652.1:p.Cys312Ser	CA249847 NM_001003652.4:c.935G>C CA402504373 NM_001003652.4:c.934T>A