ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482870
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423742
ClinVar RCV Id:
RCV000478684
RCV002470874
RCV002526957
RCV002525947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Val494Ile
CA4293089
NM_001081755.3:c.1480G>A