ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828058379
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1481685
ClinVar RCV Id:
RCV001994241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346986.1:p.Gln73Glu
CA366188018
NM_001360057.2:c.217C>G