ClinGen Allele Registry
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Canonical Allele Identifier:
PA658829531
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Pro356Leu
CA365021410
NM_183050.3:c.1067C>T