ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828284534
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205435
ClinVar RCV Id:
RCV000187396
RCV000720116
RCV000727316
RCV001084331
RCV001331453
RCV002317095
RCV003967473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355061.1:p.Arg87Gln
CA314503
NM_001368132.1:c.260G>A