ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113420
Gene: EIF2AK4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488861
ClinVar Variation:
426053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001013725.2:p.Leu643Arg
CA7473885
NM_001013703.4:c.1928T>G