ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590244
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Ala458Pro
CA278340
NM_001281723.3:c.1372G>C