Canonical Allele Identifier: PA115514
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2379
ClinVar RCV Id: RCV000393620 RCV001379690
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg265Trp
CA115512
NM_001164783.2:c.793C>T