ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068387880
Gene: EIF2B5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Ala16Asp
CA88839990
NM_003907.3:c.47C>A