ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580324256
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2155233
ClinVar RCV Id:
RCV003072231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.His283Tyr
CA402463497
NM_005359.6:c.847C>T