ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066499904
Gene: EIF2AK3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Ser136Phe
CA347762356
NM_004836.7:c.407C>T