ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828058787
Gene: EPM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001347000.1:p.Pro163Leu
CA314505
NM_001360071.2:c.488C>T