Canonical Allele Identifier: PA354929
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 224060
ClinVar RCV Id: RCV000209826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ile134Asn
CA354928
NM_000056.5:c.401T>A