Allele Registry

Canonical Allele Identifier: PA645423918

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000487244

ClinVar Variation:

423989

HGVS (amino-acid)	Matching Registered Transcripts
NP_060597.4:p.Pro300del	CA16620332 NM_018127.7:c.897_899del