Canonical Allele Identifier: PA915988916
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93354
ClinVar RCV Id: RCV000079236 RCV001283813 RCV003987352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Asp116Gly
CA221196
NM_001164783.2:c.347A>G