ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741921549
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2706400
ClinVar RCV Id:
RCV003596362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Leu529_His530del
CA2697555510
NM_005359.6:c.1585_1590del