ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463456
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373201
ClinVar RCV Id:
RCV000413724
RCV001850991
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Asn163Asp
CA4035148
NM_005670.4:c.487A>G