ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830408959
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Ile160Phe
CA364657691
NM_183050.3:c.478A>T