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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000326366.5:p.Asp40Glu
CA390302543
ENST00000324501.9:c.120C>A
CA390302544
ENST00000324501.9:c.120C>G