Canonical Allele Identifier: PA105252
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3100
ClinVar RCV Id: RCV000003246 RCV001851604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005661.1:p.Arg108Cys
CA252543
NM_005670.4:c.322C>T