ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825482482
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_001075223.1:p.Leu614Phe
CA4293244
NM_001081754.3:c.1840C>T