ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA186265
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183733
ClinVar RCV Id:
RCV000162438
RCV000196213
RCV000589285
RCV000764159
RCV001123230
RCV001123231
RCV002285148
RCV002310723
RCV001328507
RCV002468936
RCV003398830
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Thr7Met
CA186263
NM_005359.6:c.20C>T