ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828058490
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3099
ClinVar RCV Id:
RCV000003245
RCV000675700
RCV003746498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346986.1:p.Arg198Gln
CA252542
NM_001360057.2:c.593G>A