ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573258349
Gene: EIF2B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055054.1:p.Lys273Ile
CA390429104
NM_014239.4:c.818A>T