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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452477.2:p.Leu421del
CA390305984
ENST00000553599.6:c.1253T>A
CA390305985
ENST00000553599.6:c.1253T>G
CA390305991
ENST00000553599.6:c.1256T>A
CA390305993
ENST00000553599.6:c.1256T>G