ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112622
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000824637
RCV000853415
RCV003325978
ClinVar Variation:
666195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Arg339Trp
CA2726569
NM_003907.3:c.1015C>T