ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825325329
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1036552
ClinVar RCV Id:
RCV001339581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018051.1:p.Ala53Val
CA366188177
NM_001018041.2:c.158C>T