Canonical Allele Identifier: PA2827026549
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 224054
ClinVar RCV Id: RCV000209422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Val28Gly
CA354910
NM_001318975.1:c.83T>G