ClinGen Allele Registry
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Canonical Allele Identifier:
PA112566
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000412998
RCV001275519
RCV003338578
ClinVar Variation:
372361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Arg299His
CA16042501
NM_003907.3:c.896G>A