Allele Registry

Canonical Allele Identifier: PA2830368225

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005359

RCV000429965

RCV000477360

RCV000676439

RCV002490321

ClinVar Variation:

5056

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Ala540Thr	CA117233 NM_173717.2:c.1618G>A