ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112537
Gene: EIF2B5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006310
RCV001064868
RCV003221412
ClinVar Variation:
5946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Arg195His
CA340476
NM_003907.3:c.584G>A