Canonical Allele Identifier: PA2827026759
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96568
ClinVar RCV Id: RCV000082725 RCV000811483
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Tyr293Asn
CA224250
NM_001318975.1:c.877T>A