Canonical Allele Identifier: PA645419422
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 397609
ClinVar RCV Id: RCV000449606

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Thr122Asn
CA16609445
NM_183050.3:c.365C>A