Canonical Allele Identifier: PA2828284299
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 167038
ClinVar RCV Id: RCV000153197 RCV000232652 RCV000626888 RCV001704109 RCV003927479 RCV002345488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355059.1:p.Ile126Val
CA295611
NM_001368130.1:c.376A>G