Canonical Allele Identifier: PA2828058446
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_001346986.1:p.Phe145Leu
CA16042530
NM_001360057.2:c.435C>A
CA366188300
NM_001360057.2:c.435C>G
CA366188311
NM_001360057.2:c.433T>C