ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085477614
Gene: SMAD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Glu330Gln
CA402464149
NM_005359.6:c.988G>C