ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828284087
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_001355058.1:p.Gly125Ser
CA252542
NM_001368129.2:c.373G>A