ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825375266
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1349953
ClinVar RCV Id:
RCV002039390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029288.1:p.Arg231His
CA346200116
NM_001034116.2:c.692G>A