ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482748
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Lys315Arg
CA367871485
NM_001081755.3:c.944A>G