Allele Registry

Canonical Allele Identifier: PA2830368296

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005362

RCV000230766

ClinVar Variation:

5059

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Glu621Val	CA117236 NM_173717.2:c.1862A>T