Canonical Allele Identifier: PA2828058729
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205435
ClinVar RCV Id: RCV000187396 RCV000720116 RCV000727316 RCV001084331 RCV001331453 RCV002317095 RCV003967473
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001347000.1:p.Arg103Gln
CA314503
NM_001360071.2:c.308G>A