ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827025957
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2037874
ClinVar RCV Id:
RCV002882317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305895.1:p.Val379Met
CA346197475
NM_001318966.2:c.1135G>A