ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828058587
Gene: EPM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346993.1:p.His115Leu
CA4035088
NM_001360064.2:c.344A>T