ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047116
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575074
ClinVar RCV Id:
RCV000697182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355060.1:p.Pro73Thr
CA4035133
NM_001368131.1:c.217C>A