ClinGen Allele Registry
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Canonical Allele Identifier:
PA3066524022
Gene: EIF2B4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751945.2:p.Arg229Leu
CA346200406
NM_172195.4:c.686G>T