Allele Registry

Canonical Allele Identifier: PA915969845

Gene: ELN HGNC NCBI

ClinVar Allele:

567112

ClinVar RCV:

RCV000689870

RCV001551083

ClinVar Variation:

569280

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075223.1:p.Gly427Arg	CA367881796 NM_001081754.3:c.1279G>C