ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230327
Gene: EIF2B5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1372063
ClinVar RCV Id:
RCV001907916
RCV002482583
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Phe57Ser
CA2726326
NM_003907.3:c.170T>C