ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580541079
Gene: BCKDHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Ile315Val
CA364660319
NM_183050.3:c.943A>G