ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741832164
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2917076
ClinVar RCV Id:
RCV003632903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Ala383Thr
CA367881526
NM_001081754.3:c.1147G>A