Canonical Allele Identifier: PA2580151344
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1946877
ClinVar RCV Id: RCV002654044

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Ala226Val
CA406012716
NM_001164783.2:c.677C>T