ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827026480
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2006179
ClinVar RCV Id:
RCV002825760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305898.1:p.Pro227Leu
CA346197057
NM_001318969.2:c.680C>T