Allele Registry

Canonical Allele Identifier: PA915969846

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV000036524

RCV000264113

RCV000319237

RCV000486869

RCV002526645

ClinVar Variation:

43582

422996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075223.1:p.Gly427Ser	CA282319 NM_001081754.3:c.1279G>A CA16618559 NM_001081754.3:c.1278_1279delinsCA