ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828284346
Gene: EPM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355059.1:p.Thr187Ile
CA366191421
NM_001368130.1:c.560C>T