Allele Registry

Canonical Allele Identifier: PA103252

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005362

RCV000230766

ClinVar Variation:

5059

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Glu622Val	CA117236 NM_018127.7:c.1865A>T