Allele Registry

Canonical Allele Identifier: PA658664629

Gene: ELAC2 HGNC NCBI

ClinVar Variation Id: 474562

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Gln594Glu	CA398223543 NM_018127.7:c.1780C>G