ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097844
Gene: EIF2AK3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006233
ClinVar Variation:
5875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Arg588Gln
CA117825
NM_004836.7:c.1763G>A