Canonical Allele Identifier: PA645419766
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 397610
ClinVar RCV Id: RCV000449516

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Asp364Asn
CA16609446
NM_183050.3:c.1090G>A