Allele Registry

Canonical Allele Identifier: PA148157

Gene: ETFDH HGNC NCBI

ClinVar Allele:

100975

ClinVar RCV:

RCV000081080

RCV000355141

RCV000676844

RCV001826769

ClinVar Variation:

95075

HGVS (amino-acid)	Matching Registered Transcripts
NP_004444.2:p.Thr31Ile	CA148156 NM_004453.4:c.92C>T