ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826614979
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2732985
ClinVar RCV Id:
RCV003518692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265841.1:p.Ala84Ser
CA367869181
NM_001278912.2:c.250G>T