Canonical Allele Identifier: PA221199
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93356
ClinVar RCV Id: RCV000177087 RCV001854398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg124Trp
CA221198
NM_000709.4:c.370C>T