Canonical Allele Identifier: PA2825039314
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 263077
ClinVar RCV Id: RCV000246746 RCV000901604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ala29Val
CA3902493
NM_000056.5:c.86C>T