ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474918
Gene: SMAD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Leu533Phe
CA16615841
NM_005359.6:c.1597C>T