Canonical Allele Identifier: PA191789
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 185388
ClinVar RCV Id: RCV000164798 RCV000196374 RCV001508829 RCV001328522 RCV002310740 RCV003316029
JSON-LD

Amino-acid Alleles

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