Canonical Allele Identifier: PA916024157
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_001305904.1:p.Gly65Arg
CA3902600
NM_001318975.1:c.193G>A
CA364660480
NM_001318975.1:c.193G>C