Canonical Allele Identifier: PA252547
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3102
ClinVar RCV Id: RCV000003248 RCV000469417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018051.1:p.Arg171His
CA252546
NM_001018041.2:c.512G>A