ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482019
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2278448
ClinVar RCV Id:
RCV002822887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075222.1:p.Gly371Glu
CA367881373
NM_001081753.3:c.1112G>A