Allele Registry

Canonical Allele Identifier: PA2826616353

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV000198008

RCV000279620

RCV000334634

ClinVar Variation:

213175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265844.1:p.Pro220Leu	CA322484 NM_001278915.2:c.659C>T