Canonical Allele Identifier: PA224316
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96595
ClinVar RCV Id: RCV000082753 RCV001831891 RCV001857396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg183Trp
CA224315
NM_000056.5:c.547C>T