ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825325352
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205433
ClinVar RCV Id:
RCV000187393
RCV003989499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018051.1:p.Glu70Val
CA314498
NM_001018041.2:c.209A>T