Canonical Allele Identifier: PA2580541037
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2442395
ClinVar RCV Id: RCV003149167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Leu194Phe
CA364657941
NM_183050.3:c.580C>T