Canonical Allele Identifier: PA645419346
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 263077
ClinVar RCV Id: RCV000246746 RCV000901604
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Ala29Val
CA3902493
NM_183050.3:c.86C>T