ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278389
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Leu173Arg
CA278388
NM_000060.4:c.518T>G