ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580204757
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2183475
ClinVar RCV Id:
RCV002599631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305894.1:p.Arg375Gln
CA1576664
NM_001318965.2:c.1124G>A