ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825202369
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2078555
ClinVar RCV Id:
RCV002993832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Ala84Thr
CA4292409
NM_000501.4:c.250G>A