ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112713
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001941541
RCV003418251
ClinVar Variation:
1453777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Leu68Ser
CA2726343
NM_003907.3:c.203T>C