ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259221
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38283
ClinVar RCV Id:
RCV001376547
RCV002453278
RCV004018695
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Arg380Lys
CA259219
NM_005359.6:c.1139G>A