ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828284241
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058333
ClinVar RCV Id:
RCV001367457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355059.1:p.Ala71_Glu77dup