ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043199
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387240
ClinVar RCV Id:
RCV000417877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346986.1:p.Glu210Lys
CA4035054
NM_001360057.2:c.628G>A