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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514937.1:p.Phe114Leu
CA390304687
ENST00000700310.1:c.340T>C
CA390304698
ENST00000700310.1:c.342C>A
CA390304700
ENST00000700310.1:c.342C>G