ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881191
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2094925
ClinVar RCV Id:
RCV003025614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Pro117Thr
CA392954401
NM_001145103.2:c.349C>A