ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825202851
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490329
ClinVar RCV Id:
RCV003215275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Ala598Pro
CA367889272
NM_000501.4:c.1792G>C