ClinGen Allele Registry
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Canonical Allele Identifier:
PA645419447
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_898871.1:p.Glu163Ter
NM_183050.3:c.487G>T