ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024147
Gene: EIF2B4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305898.1:p.Arg3Gln
CA1576829
NM_001318969.2:c.8G>A