ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982389
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000539900
RCV000768094
ClinVar Variation:
477579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Pro68Ser
CA392956266
NM_001145104.2:c.202C>T