ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272131
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044963
ClinVar RCV Id:
RCV001349296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Val331Ile
CA392957298
NM_005902.4:c.991G>A