ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645295038
Gene: EIF2AK3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Arg240His
CA1754859
NM_004836.7:c.719G>A