ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314479
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205423
ClinVar RCV Id:
RCV000187383
RCV001218707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Arg325His
CA314478
NM_005670.4:c.974G>A