ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881024
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1329282
ClinVar RCV Id:
RCV001799325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Lys273Glu
CA392958321
NM_001145102.2:c.817A>G