Canonical Allele Identifier: PA2825039292
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2145846
ClinVar RCV Id: RCV003074260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ala8Gly
CA3902476
NM_000056.5:c.23C>G