Canonical Allele Identifier: PA916024165
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 457149
ClinVar RCV Id: RCV000553115 RCV001829563
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg98His
CA364657743
NM_001318975.1:c.293G>A