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
ENSP00000500325.1:p.Arg59Cys
CA082670
ENST00000673620.1:c.[175C>T;399+3160A>C]
CA082734
ENST00000673620.1:c.[175C>T;399+2269G>A]
CA278016
ENST00000673620.1:c.175C>T