Canonical Allele Identifier: PA916024153
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96582
ClinVar RCV Id: RCV000082740 RCV000529039 RCV001831888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Thr52Ile
CA224277
NM_001318975.1:c.155C>T