ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828284493
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3102
ClinVar RCV Id:
RCV000003248
RCV000469417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355061.1:p.Arg17His
CA252546
NM_001368132.1:c.50G>A