ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828283992
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_001355058.1:p.Asn9Asp
CA4035148
NM_001368129.2:c.25A>G