Allele Registry

Canonical Allele Identifier: PA2826617531

Gene: ELN HGNC NCBI

ClinVar Allele:

209939

ClinVar RCV:

RCV000351619

RCV000405378

RCV001579602

RCV004530153

ClinVar Variation:

213166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265846.1:p.Pro657Ser	CA321710 NM_001278917.2:c.1969C>T