Allele Registry

Canonical Allele Identifier: PA346893

Gene: ETFDH HGNC NCBI

ClinVar Allele:

196253

ClinVar RCV:

RCV000180601

RCV000723385

RCV001826924

ClinVar Variation:

199094

HGVS (amino-acid)	Matching Registered Transcripts
NP_004444.2:p.Leu334Pro	CA346892 NM_004453.4:c.1001T>C