ClinGen Allele Registry
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Canonical Allele Identifier:
PA093407
Gene: EIF2B4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001029288.1:p.Leu269Arg
NM_001034116.2:c.806T>G