Canonical Allele Identifier: PA2828058339
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205424
ClinVar RCV Id: RCV000638309 RCV000426321 RCV002317094 RCV003607255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346986.1:p.Gly50Arg
CA314480
NM_001360057.2:c.148G>A
CA366188211
NM_001360057.2:c.148G>C