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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385948.1:p.Leu82del
CA390296164
ENST00000406768.1:c.239T>A
CA390296198
ENST00000406768.1:c.242T>A
CA915948844
ENST00000406768.1:c.241_243del
CA2499222718
ENST00000406768.1:c.244_246del