ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139716390
Gene: BCKDK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005872.2:p.Ile265Leu
CA395658898
NM_005881.4:c.793A>C