ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482113
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_001075222.1:p.Val499Ile
CA4293089
NM_001081753.3:c.1495G>A