ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3082214023
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Glu28Gln
CA393202842
NM_005902.4:c.82G>C