Allele Registry

Canonical Allele Identifier: PA916068890

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056276

RCV004527310

ClinVar Variation:

66037

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Phe154Leu	CA144837 NM_173717.2:c.460T>C CA398217981 NM_173717.2:c.462T>A CA398217983 NM_173717.2:c.462T>G