ClinGen Allele Registry
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Canonical Allele Identifier:
PA915995098
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822243
ClinVar RCV Id:
RCV002327230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.His382Tyr
CA402464718
NM_005359.6:c.1144C>T