ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825481665
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075221.1:p.Ala481Ser
CA4293086
NM_001081752.3:c.1441G>T