ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915969830
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524218
ClinVar RCV Id:
RCV000627826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Lys320Arg
CA367871485
NM_001081754.3:c.959A>G