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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514906.1:p.Phe175Leu
CA390296434
ENST00000700271.1:c.523T>C
CA390296471
ENST00000700271.1:c.525C>A
CA390296480
ENST00000700271.1:c.525C>G