Canonical Allele Identifier: PA225190
Gene: PSEN1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000012.1:p.Thr440del
NM_000021.3:c.1318_1320del

NM_000021.3:c.[1318_1320del;1323T>C]