Canonical Allele Identifier: PA2825039321
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2194197
ClinVar RCV Id: RCV002624276 RCV002624275
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly34Ser
CA364658190
NM_000056.5:c.100G>A