ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645459252
Gene: EIF2AK4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488662
ClinVar Variation:
426060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001013725.2:p.Pro1115Leu
CA7474312
NM_001013703.4:c.3344C>T