ClinGen Allele Registry
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Canonical Allele Identifier:
PA658673965
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000579689
RCV000764162
RCV001584257
RCV002231713
RCV002268143
RCV002319530
RCV003999046
ClinVar Variation:
460557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Arg189His
CA8965830
NM_005359.6:c.566G>A