Canonical Allele Identifier: PA916024155
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 594238
ClinVar RCV Id: RCV000729477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Pro53Leu
CA364660404
NM_001318975.1:c.158C>T