Canonical Allele Identifier: PA247672
Gene: BCKDK HGNC NCBI

Linked Data

ClinVar Variation Id: 198833
ClinVar RCV Id: RCV000180288 RCV001852244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005872.2:p.Ile231Thr
CA247671
NM_005881.4:c.692T>C