Allele Registry

Canonical Allele Identifier: PA2826616040

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV001551555

RCV002570692

RCV004528513

ClinVar Variation:

1190736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265843.1:p.Gly423Arg	CA4292916 NM_001278914.2:c.1267G>A CA367881828 NM_001278914.2:c.1267G>C