ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826592343
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Leu515Phe
CA351962544
NM_001281725.2:c.1543C>T