Canonical Allele Identifier: PA2827026583
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96592
ClinVar RCV Id: RCV000082750 RCV000631889 RCV002513855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Arg100Pro
CA224306
NM_001318975.1:c.299G>C