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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000326366.5:p.Thr440del
ENST00000324501.9:c.1318_1320del

ENST00000324501.9:c.[1318_1320del;1323T>C...