Canonical Allele Identifier: PA2742032586
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2798369
ClinVar RCV Id: RCV003636366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Arg170_Ser171del
CA2739273285
NM_183050.3:c.508_513del