Allele Registry

Canonical Allele Identifier: PA191789

Gene: SMAD4 HGNC NCBI

ClinVar RCV:

RCV000164798

RCV000196374

RCV001328522

RCV001508829

RCV002310740

RCV003316029

ClinVar Variation:

185388

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.Gln248Leu	CA191787 NM_005359.6:c.743A>T