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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385948.1:p.Arg230Ser
CA390305337
ENST00000406768.1:c.690G>T
CA390305338
ENST00000406768.1:c.690G>C