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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451588.1:p.[Arg38_His42delinsGlnThrGlu;Glu44Trp;Leu46_Arg50del;Gln52Ter]
CA2625555436
ENST00000556864.5:c.109_112dup