Allele Registry

Canonical Allele Identifier: PA321711

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV000351619

RCV000405378

RCV001579602

RCV004530153

ClinVar Variation:

213166

HGVS (amino-acid)	Matching Registered Transcripts
NP_000492.2:p.Pro667Ser	CA321710 NM_000501.4:c.1999C>T