Allele Registry

Canonical Allele Identifier: PA2826008561

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005362

RCV000230766

ClinVar Variation:

5059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159434.1:p.Glu582Val	CA117236 NM_001165962.2:c.1745A>T