ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454634
Gene: EIF2B5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003898.2:p.Leu127Pro
NM_003907.3:c.380T>C