ClinGen Allele Registry
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Canonical Allele Identifier:
PA112513
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006308
RCV000254893
RCV001420331
RCV003221411
RCV004018575
ClinVar Variation:
5945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Arg113His
CA117878
NM_003907.3:c.338G>A