Canonical Allele Identifier: PA916062144
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 656848
ClinVar RCV Id: RCV000813353

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060597.4:p.Glu817del
CA726211189
NM_018127.7:c.2445_2447del