Allele Registry

Canonical Allele Identifier: PA2573273624

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV001904552

RCV002489990

ClinVar Variation:

1359788

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Glu622Gly	CA8401040 NM_018127.7:c.1865A>G