ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139677199
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Gly131Cys
CA367869476
NM_001081754.3:c.391G>T