Allele Registry

Canonical Allele Identifier: PA121818

Gene: ETFDH HGNC NCBI

ClinVar Allele:

27067

ClinVar RCV:

RCV000012808

RCV000224728

RCV000553294

RCV003231099

ClinVar Variation:

12028

HGVS (amino-acid)	Matching Registered Transcripts
NP_004444.2:p.Ala84Thr	CA121817 NM_004453.4:c.250G>A