Canonical Allele Identifier: PA1139758041
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 846897
ClinVar RCV Id: RCV001050318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.His206Pro
CA364658120
NM_183050.3:c.617A>C