ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573182191
Gene: SMAD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Ser71Leu
CA062675
NM_001145104.2:c.212C>T