Canonical Allele Identifier: PA2827026627
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 846897
ClinVar RCV Id: RCV001050318

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.His136Pro
CA364658120
NM_001318975.1:c.407A>C