ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139677262
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Val290Met
CA4292721
NM_001081754.3:c.868G>A