ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826615525
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265842.1:p.Val249Met
CA4292721
NM_001278913.2:c.745G>A