ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139707472
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921808
ClinVar RCV Id:
RCV001181456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Leu280Val
CA402463456
NM_005359.6:c.838T>G