ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230390
Gene: EIF2B5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1475157
ClinVar RCV Id:
RCV001973913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Val318Ala
CA355385311
NM_003907.3:c.953T>C