Allele Registry

Canonical Allele Identifier: PA2826615190

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV001551555

RCV002570692

RCV004528513

ClinVar Variation:

1190736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265841.1:p.Gly428Arg	CA4292916 NM_001278912.2:c.1282G>A CA367881828 NM_001278912.2:c.1282G>C