Canonical Allele Identifier: PA2828058553
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205428
ClinVar RCV Id: RCV000726476 RCV001088121 RCV003977496 RCV002362981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346993.1:p.Arg69His
CA314488
NM_001360064.2:c.206G>A