Canonical Allele Identifier: PA2580151342
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2050562
ClinVar RCV Id: RCV002904501 RCV004066285 RCV003984285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg225Trp
CA9461239
NM_001164783.2:c.673C>T