Allele Registry

Canonical Allele Identifier: PA2573273685

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV002029941

ClinVar Variation:

1346303

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Arg781Leu	CA398222264 NM_018127.7:c.2342G>T