ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645295048
Gene: EIF2AK3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000278324
RCV001850815
RCV003258775
ClinVar Variation:
337404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004827.4:p.Met746Thr
CA1754480
NM_004836.7:c.2237T>C