ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: BTD
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000306477.5:p.[Arg79Cys;Arg157His]
CA082734
ENST00000303498.9:c.[235C>T;470G>A]