ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645295042
Gene: EIF2AK3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445365
RCV000764448
RCV001339493
RCV002279228
ClinVar Variation:
393382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Gly584Glu
CA1754614
NM_004836.7:c.1751G>A