Canonical Allele Identifier: PA1139688696
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 911325
ClinVar Variation Id: 1691674
ClinVar RCV Id: RCV002255080

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265868.1:p.Gly669Arg
CA4293241
NM_001278939.2:c.2005G>A
CA4293242
NM_001278939.2:c.2005G>C