ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063912233
Gene: EIF2B3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065098.1:p.Val46Ile
CA21763794
NM_020365.5:c.136G>A