Canonical Allele Identifier: PA2825482048
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 360649
ClinVar RCV Id: RCV000305970 RCV000360713 RCV001551670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001075222.1:p.Gly417Arg
CA4292902
NM_001081753.3:c.1249G>A
CA367881738
NM_001081753.3:c.1249G>C