Allele Registry

Canonical Allele Identifier: PA2830368115

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056277

ClinVar Variation:

66038

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Leu422Phe	CA144838 NM_173717.2:c.1264C>T