Canonical Allele Identifier: PA2828058511
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 373591
ClinVar RCV Id: RCV000413271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001346993.1:p.Phe7Leu
CA16042530
NM_001360064.2:c.21C>A
CA366188300
NM_001360064.2:c.21C>G
CA366188311
NM_001360064.2:c.19T>C