ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048645
Gene: BTD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001357681.1:p.Leu195Phe
NM_001370752.1:c.583C>T