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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.Ser87del
CA390296070
ENST00000700312.1:c.257C>A
CA390296072
ENST00000700312.1:c.257C>G
CA2580613716
ENST00000700312.1:c.258_260del