Allele Registry

Canonical Allele Identifier: PA103307

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056274

ClinVar Variation:

66035

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Thr520Ile	CA144833 NM_018127.7:c.1559C>T