ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827026217
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4121
ClinVar RCV Id:
RCV003221397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305896.1:p.Cys434Arg
CA116652
NM_001318967.2:c.1300T>C