ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825482301
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1312158
ClinVar RCV Id:
RCV001761379
RCV003631222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075223.1:p.Ala99Thr
CA4292419
NM_001081754.3:c.295G>A