ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829624384
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492867
ClinVar RCV Id:
RCV001983935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Cys233Trp
CA392955953
NM_005902.4:c.699C>G