Canonical Allele Identifier: PA2580151289
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1949890
ClinVar RCV Id: RCV002659574
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Asp152Glu
CA406008204
NM_001164783.2:c.456C>A
CA406008207
NM_001164783.2:c.456C>G