Allele Registry

Canonical Allele Identifier: PA103279

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000056277

ClinVar Variation:

66038

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Leu423Phe	CA144838 NM_018127.7:c.1267C>T