ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139688165
Gene: APOE
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001289617.1:p.Leu193del
NM_001302688.2:c.578_580del
NM_001302688.2:c.[578_580del;582C>A]
NM_001302688.2:c.[578_580del;582C=]
NM_001302688.2:c.[578_580del;582C>G]
NM_001302688.2:c.[578_580del;582C>T]