ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829453072
Gene: EIF2B5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3087904
ClinVar RCV Id:
RCV004377737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Lys173Arg
CA355382140
NM_003907.3:c.518A>G