Canonical Allele Identifier: PA2828058348
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1036552
ClinVar RCV Id: RCV001339581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Ala53Val
CA366188177
NM_001360057.2:c.158C>T