Allele Registry

Canonical Allele Identifier: PA2826593910

Gene: ETFDH HGNC NCBI

ClinVar RCV:

RCV000483304

RCV000818859

ClinVar Variation:

418184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268666.1:p.Pro487Leu	CA3122669 NM_001281737.2:c.1460C>T