ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482892
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Val540Ile
CA4293156
NM_001081755.3:c.1618G>A