ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825325293
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3107
ClinVar RCV Id:
RCV000003253
RCV000494425
RCV002512695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018051.1:p.Trp32Gly
CA252549
NM_001018041.2:c.94T>G