Canonical Allele Identifier: PA2825241699
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1520107
ClinVar RCV Id: RCV002043878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala253Gly
CA406012889
NM_000709.4:c.758C>G