Allele Registry

Canonical Allele Identifier: PA2825482211

Gene: ELN HGNC NCBI

ClinVar Allele:

209939

ClinVar RCV:

RCV000351619

RCV000405378

RCV001579602

RCV004530153

ClinVar Variation:

213166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075222.1:p.Pro653Ser	CA321710 NM_001081753.3:c.1957C>T