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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000451429.1:p.Thr382del
ENST00000557511.5:c.1144_1146del

ENST00000557511.5:c.[1144_1146del;1149T>C...