ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482080
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075222.1:p.Gln447Glu
CA367881956
NM_001081753.3:c.1339C>G