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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000318351.5:p.Gln198His
CA364658019
ENST00000320393.9:c.594G>C
CA364658023
ENST00000320393.9:c.594G>T