ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828284122
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205423
ClinVar RCV Id:
RCV000187383
RCV001218707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355058.1:p.Arg171His
CA314478
NM_001368129.2:c.512G>A