Canonical Allele Identifier: PA916047100
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 377830
ClinVar RCV Id: RCV000444403 RCV002061385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355059.1:p.Ser246Cys
CA4035116
NM_001368130.1:c.737C>G