ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474872
Gene: SMAD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Gly386Ala
CA16602966
NM_005359.6:c.1157G>C