Canonical Allele Identifier: PA224310
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96593
ClinVar RCV Id: RCV000179049 RCV001202851 RCV001831890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Asn176Tyr
CA224309
NM_000056.5:c.526A>T