Canonical Allele Identifier: PA2573247312
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1378218
ClinVar RCV Id: RCV001881025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005661.1:p.Gly75Arg
CA366188003
NM_005670.4:c.223G>C
CA366188004
NM_005670.4:c.223G>A