ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658749474
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
492474
ClinVar RCV Id:
RCV000582556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ala60Val
CA402457958
NM_005359.6:c.179C>T