ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112728
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006305
RCV000255738
RCV003221408
ClinVar Variation:
5942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Thr91Ala
CA340473
NM_003907.3:c.271A>G