Allele Registry

Canonical Allele Identifier: PA322485

Gene: ELN HGNC NCBI

ClinVar Allele:

209919

ClinVar RCV:

RCV000198008

RCV000279620

RCV000334634

ClinVar Variation:

213175

HGVS (amino-acid)	Matching Registered Transcripts
NP_000492.2:p.Pro220Leu	CA322484 NM_000501.4:c.659C>T