Canonical Allele Identifier: PA2826004295
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93344
ClinVar RCV Id: RCV000180522 RCV000790815 RCV000853374 RCV002514392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Val411Met
CA221182
NM_001164783.2:c.1231G>A