ClinGen Allele Registry
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Canonical Allele Identifier:
PA243362
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196413
ClinVar RCV Id:
RCV000177234
RCV001252481
RCV001083180
RCV002314628
RCV003907592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005661.1:p.Ala227Val
CA243361
NM_005670.4:c.680C>T