ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105260
Gene: EPM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005661.1:p.Arg171His
NM_005670.4:c.512G>A