Allele Registry

Canonical Allele Identifier: PA2826594946

Gene: ETFDH HGNC NCBI

ClinVar Allele:

40286

ClinVar RCV:

RCV000024306

RCV000634896

RCV001250164

RCV001831606

RCV002054473

ClinVar Variation:

31602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268667.1:p.Pro422Leu	CA129836 NM_001281738.1:c.1265C>T