Allele Registry

Canonical Allele Identifier: PA2826008490

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056274

ClinVar Variation:

66035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159434.1:p.Thr480Ile	CA144833 NM_001165962.2:c.1439C>T