ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830348527
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_751945.2:p.Val414Met
CA346197475
NM_172195.4:c.1240G>A