ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826947420
Gene: EIF2AK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1502189
ClinVar RCV Id:
RCV002010916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001300844.1:p.Gln611Glu
CA347592070
NM_001313915.2:c.1831C>G