ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048667
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.His245Leu
CA278260
NM_001370752.1:c.734A>T