Canonical Allele Identifier: PA2828284218
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205430
ClinVar RCV Id: RCV000706648 RCV001721193 RCV002399696
ClinVar Variation Id: 205450
ClinVar RCV Id: RCV000187412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355059.1:p.Ala53Thr
CA314492
NM_001368130.1:c.157G>A
CA314531
NM_001368130.1:c.157_159delinsACG