Canonical Allele Identifier: PA224342
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96608
ClinVar RCV Id: RCV000180018 RCV000586350 RCV000790839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val251Ala
CA224341
NM_000056.5:c.752T>C