ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA162133
Gene: SMAD4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Met294Val
CA162131
NM_005359.6:c.880A>G