Canonical Allele Identifier: PA115520
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2381
ClinVar RCV Id: RCV000179776 RCV002222336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Thr310Arg
CA115518
NM_000709.4:c.929C>G