ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881340
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001938628
ClinVar Variation:
1417802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Ser222Leu
CA062675
NM_001145103.2:c.665C>T