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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011534327.1:p.[Leu12_Arg15delinsGln;Ala17Gln;Ala19_Glu20del;His22_Trp23del;Arg25_Pro27del;Ala29_Thr41del]
CA224272
XM_011536025.3:c.33_34del