Canonical Allele Identifier: PA224348
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 65771
ClinVar RCV Id: RCV000056009 RCV000762424 RCV000587416
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Gly278Ser
CA224347
NM_183050.3:c.832G>A