ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825482923
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360658
ClinVar RCV Id:
RCV000285328
RCV000381857
RCV001556564
RCV004022054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Leu590Phe
CA4293244
NM_001081755.3:c.1768C>T