ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047114
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205428
ClinVar RCV Id:
RCV000726476
RCV001088121
RCV003977496
RCV002362981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355060.1:p.Arg69His
CA314488
NM_001368131.1:c.206G>A