ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829624391
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944199
ClinVar RCV Id:
RCV001214550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Ser236Phe
CA392955987
NM_005902.4:c.707C>T