ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024132
Gene: EIF2B4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001305894.1:p.Arg395Cys
NM_001318965.2:c.1183C>T