Canonical Allele Identifier: PA2828284098
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205434
ClinVar RCV Id: RCV000187395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355058.1:p.Gln139Leu
CA314502
NM_001368129.2:c.416A>T