ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828284513
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205428
ClinVar RCV Id:
RCV000726476
RCV001088121
RCV003977496
RCV002362981
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355061.1:p.Arg53His
CA314488
NM_001368132.1:c.158G>A