ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454671
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485403
ClinVar Variation:
421630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Ile449Phe
CA16617856
NM_003907.3:c.1345A>T