Canonical Allele Identifier: PA2828058381
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1378218
ClinVar RCV Id: RCV001881025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Gly75Arg
CA366188003
NM_001360057.2:c.223G>C
CA366188004
NM_001360057.2:c.223G>A