Canonical Allele Identifier: PA2827026749
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96564
ClinVar RCV Id: RCV000173927 RCV000790712 RCV001831887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Cys279Tyr
CA224238
NM_001318975.1:c.836G>A