ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA293623
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Ile170Val
CA020092
NM_005902.4:c.508A>G