Canonical Allele Identifier: PA2499271653
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1046134
ClinVar RCV Id: RCV001350651
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005661.1:p.Ala71Glu
CA366188025
NM_005670.4:c.212C>A