ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: EPM2A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000492876.1:p.Ala53Thr
CA314492
ENST00000638262.1:c.157G>A
CA314531
ENST00000638262.1:c.157_159delinsACG