Allele Registry

Canonical Allele Identifier: PA1139766055

Gene: ELAC2 HGNC NCBI

ClinVar RCV:

RCV000487244

ClinVar Variation:

423989

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Pro300del	CA16620332 NM_173717.2:c.897_899del