ClinGen Allele Registry
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Canonical Allele Identifier:
PA224986
Gene: PSEN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000012.1:p.Ile83_Met84del
NM_000021.3:c.247_252del
NM_000021.3:c.[247_252del;254T=]
NM_000021.3:c.[247_252del;255C>A]
NM_000021.3:c.[247_252del;255C=]
NM_000021.3:c.[247_252del;255C>G]
NM_000021.3:c.[247_252del;255C>T]