Canonical Allele Identifier: PA2828058380
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1037355
ClinVar RCV Id: RCV001340492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Asp74Glu
CA4035235
NM_001360057.2:c.222C>G
CA366188005
NM_001360057.2:c.222C>A