Canonical Allele Identifier: PA2828058314
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 567018
ClinVar RCV Id: RCV000686981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Trp32Arg
CA366188420
NM_001360057.2:c.94T>C
CA366188422
NM_001360057.2:c.94T>A