Canonical Allele Identifier: PA2828284035
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 196413
ClinVar RCV Id: RCV000177234 RCV001252481 RCV001083180 RCV002314628 RCV003907592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355058.1:p.Ala73Val
CA243361
NM_001368129.2:c.218C>T