ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982410
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179456
RCV001852232
ClinVar Variation:
198187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Arg73Cys
CA020119
NM_001145104.2:c.217C>T