Allele Registry

Canonical Allele Identifier: PA2825481618

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV001551555

RCV002570692

RCV004528513

ClinVar Variation:

1190736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075221.1:p.Gly418Arg	CA4292916 NM_001081752.3:c.1252G>A CA367881828 NM_001081752.3:c.1252G>C