ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499270856
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1066208
ClinVar RCV Id:
RCV001377145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ile383Met
CA402464729
NM_005359.6:c.1149A>G