ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825039384
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Thr122Asn
CA16609445
NM_000056.5:c.365C>A