Allele Registry

Canonical Allele Identifier: PA645463817

Gene: ETFDH HGNC NCBI

ClinVar Allele:

406418

ClinVar RCV:

RCV000485144

RCV002525759

ClinVar Variation:

418182

HGVS (amino-acid)	Matching Registered Transcripts
NP_004444.2:p.Arg175Cys	CA3122387 NM_004453.4:c.523C>T