Canonical Allele Identifier: PA916024158
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 370949
ClinVar RCV Id: RCV000410485 RCV001828375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Ala67Val
CA3902601
NM_001318975.1:c.200C>T