ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093764
Gene: EIF2B2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055054.1:p.Val316Asp
NM_014239.4:c.947T>A