ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA149068
Gene: EIF2B3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95945
ClinVar RCV Id:
RCV000081997
RCV000397648
RCV001521540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001160060.1:p.Ser404Ala
CA149067
NM_001166588.3:c.1210T>G