ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826481676
Gene: EIF2B3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1696367
ClinVar RCV Id:
RCV002266512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001248347.1:p.Pro95Leu
CA340101179
NM_001261418.2:c.284C>T