Allele Registry

Canonical Allele Identifier: PA2830368210

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056274

ClinVar Variation:

66035

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Thr519Ile	CA144833 NM_173717.2:c.1556C>T