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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452242.1:p.Phe179Leu
CA390296434
ENST00000553855.5:c.535T>C
CA390296471
ENST00000553855.5:c.537C>A
CA390296480
ENST00000553855.5:c.537C>G