ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827025872
Gene: EIF2B4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305895.1:p.Gly196Cys
CA346200392
NM_001318966.2:c.586G>T