ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321193
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471572
ClinVar Variation:
213764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Pro263Ala
CA321192
NM_005902.4:c.787C>G