ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573087090
Gene: SMAD4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001771468
ClinVar Variation:
1314237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ser178Leu
CA402460859
NM_005359.6:c.533C>T