Canonical Allele Identifier: PA2827026586
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96590
ClinVar RCV Id: RCV000179043 RCV000790692 RCV002513854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg100Cys
CA224301
NM_001318975.1:c.298C>T