ClinGen Allele Registry
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Canonical Allele Identifier:
PA658829529
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Glu330Lys
CA365009112
NM_183050.3:c.988G>A