Allele Registry

Canonical Allele Identifier: PA916068899

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000005358

RCV000419055

RCV000676444

RCV000989756

RCV002476932

ClinVar Variation:

5055

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Ser217Leu	CA117232 NM_173717.2:c.650C>T