ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195932
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Phe383Val
CA312373
NM_001323582.1:c.1147T>G