ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068434812
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Leu195Val
CA2277354
NM_001281723.3:c.583C>G