ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994740
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
641352
ClinVar RCV Id:
RCV002233865
RCV002360919
RCV002257956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Leu229Arg
CA8965887
NM_005359.6:c.686T>G