ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826617485
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265846.1:p.Leu599Phe
CA4293244
NM_001278917.2:c.1795C>T