Canonical Allele Identifier: PA2826617482
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 911325
ClinVar RCV Id: RCV001163706 RCV001163707
ClinVar Variation Id: 1691674
ClinVar RCV Id: RCV002255080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265846.1:p.Gly597Arg
CA4293241
NM_001278917.2:c.1789G>A
CA4293242
NM_001278917.2:c.1789G>C