ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825881657
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075165
ClinVar RCV Id:
RCV004015691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Gly106dup
CA2825002298
NM_001145104.2:c.315_317dup