ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272130
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Ser70Tyr
CA392953423
NM_005902.4:c.209C>A