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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514939.1:p.Gly100Arg
CA390296577
ENST00000700312.1:c.298G>A
CA390296582
ENST00000700312.1:c.298G>C