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
NP_000051.1:p.[Gly45Arg;Ala289Pro]
CA081801
NM_000060.4:c.[133G>A;865G>C]