ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230351
Gene: EIF2B5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1402435
ClinVar RCV Id:
RCV001906437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Thr194Ile
CA2726423
NM_003907.3:c.581C>T