ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825202845
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000492.2:p.Lys594Ile
CA367887804
NM_000501.4:c.1781A>T