ClinGen Allele Registry
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Canonical Allele Identifier:
PA915982286
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39268
ClinVar RCV:
RCV000023247
RCV002313719
ClinVar Variation:
30312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Ala7Val
CA020077
NM_001145102.2:c.20C>T