ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829575053
Gene: EIF2AK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3087867
ClinVar RCV Id:
RCV004377700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Leu684Phe
CA1754517
NM_004836.7:c.2050C>T