Allele Registry

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Canonical Allele Identifier: PA2825482162

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_001075222.1:p.Gly593Arg	CA4293241 NM_001081753.3:c.1777G>A CA4293242 NM_001081753.3:c.1777G>C