Allele Registry

Canonical Allele Identifier: PA312478

Gene: ETFA HGNC NCBI

ClinVar Allele:

200295

ClinVar RCV:

RCV000320514

RCV000726964

RCV003917703

ClinVar Variation:

203687

HGVS (amino-acid)	Matching Registered Transcripts
NP_000117.1:p.Thr178Arg	CA312477 NM_000126.4:c.533C>G