Canonical Allele Identifier: PA2825039395
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 496569
ClinVar RCV Id: RCV000589594 RCV000732154 RCV001796129 RCV001814191
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly135Arg
CA3902600
NM_000056.5:c.403G>A
CA364660480
NM_000056.5:c.403G>C