Canonical Allele Identifier: PA2825325498
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 462933
ClinVar RCV Id: RCV000556253 RCV001563435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018051.1:p.Val249Leu
CA366190434
NM_001018041.2:c.745G>T
CA366190435
NM_001018041.2:c.745G>C