ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047120
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177234
RCV001083180
RCV001252481
RCV002314628
RCV003907592
ClinVar Variation:
196413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355060.1:p.Ala89Val
CA243361
NM_001368131.1:c.266C>T