ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826615930
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265843.1:p.Ala251Val
CA4292687
NM_001278914.2:c.752C>T