Canonical Allele Identifier: PA221223
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93376
ClinVar RCV Id: RCV000079259 RCV000664897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg297His
CA221222
NM_000709.4:c.890G>A