ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043195
Gene: EPM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3098
ClinVar RCV Id:
RCV000003244
RCV000187394
RCV000703218
RCV002371755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001346986.1:p.Pro160Leu
CA314500
NM_001360057.2:c.479C>T