Canonical Allele Identifier: PA2580541097
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2228081
ClinVar RCV Id: RCV002712194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Asp384His
CA365021599
NM_183050.3:c.1150G>C