Allele Registry

Canonical Allele Identifier: PA2826008502

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005359

RCV000429965

RCV000477360

RCV000676439

RCV002490321

ClinVar Variation:

5056

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159434.1:p.Ala501Thr	CA117233 NM_001165962.2:c.1501G>A