ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009317
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000811050
ClinVar Variation:
654976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Arg373Ser
CA392958287
NM_005902.4:c.1117C>A