Allele Registry

Canonical Allele Identifier: PA2826616032

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV000036524

RCV000264113

RCV000319237

RCV000486869

RCV002526645

ClinVar Variation:

43582

422996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265843.1:p.Gly417Ser	CA282319 NM_001278914.2:c.1249G>A CA16618559 NM_001278914.2:c.1248_1249delinsCA