ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128912
Gene: EIF4G1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937884.1:p.Ala502Val
CA128911
NM_198241.2:c.1505C>T