Allele Registry

Canonical Allele Identifier: PA2825202686

Gene: ELN HGNC NCBI

ClinVar Allele:

567112

ClinVar RCV:

RCV000689870

RCV001551083

ClinVar Variation:

569280

HGVS (amino-acid)	Matching Registered Transcripts
NP_000492.2:p.Gly422Arg	CA367881796 NM_000501.4:c.1264G>C