Canonical Allele Identifier: PA2827026584
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96591
ClinVar RCV Id: RCV000082749 RCV000179047
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg100His
CA224304
NM_001318975.1:c.299G>A