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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451880.2:p.Leu382Phe
CA390305987
ENST00000557293.6:c.1146A>C
CA390305988
ENST00000557293.6:c.1146A>T