ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982372
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000023243
ClinVar Variation:
30308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Thr66Ile
CA020109
NM_001145104.2:c.197C>T