ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024165
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305904.1:p.Arg98His
CA364657743
NM_001318975.1:c.293G>A