ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191268
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164559
RCV000197959
RCV001328514
RCV001770124
RCV002310736
RCV003316025
ClinVar Variation:
185189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Thr349Ile
CA191266
NM_005359.6:c.1046C>T