ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826617154
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441207
ClinVar RCV Id:
RCV003147036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265846.1:p.Ala74Glu
CA367869184
NM_001278917.2:c.221C>A