Allele Registry

Canonical Allele Identifier: PA2826594994

Gene: ETFDH HGNC NCBI

ClinVar RCV:

RCV000174333

RCV000275519

ClinVar Variation:

194057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268667.1:p.Asp450Asn	CA239854 NM_001281738.1:c.1348G>A