ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825881369
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Arg243Leu
CA392956411
NM_001145103.2:c.728G>T