Allele Registry

Canonical Allele Identifier: PA2826008422

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056277

ClinVar Variation:

66038

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159434.1:p.Leu383Phe	CA144838 NM_001165962.2:c.1147C>T