ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825481677
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Ala502Thr
CA4293124
NM_001081752.3:c.1504G>A