ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085600376
Gene: SMAD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005892.1:p.Glu159Lys
CA402501911
NM_005901.6:c.475G>A