ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245002
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265868.1:p.Gly519Ala
CA367884915
NM_001278939.2:c.1556G>C