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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000452242.1:p.Leu166del
ENST00000553855.5:c.[496C>A;501_503del]

ENST00000553855.5:c.496_498del

ENST00000553855.5:c.[496_498del;500T=]

ENST00000553855.5:c.[496_498del;501T>A]

ENST00000553855.5:c.[496_498del;501T>C]

ENST00000553855.5:c.[496_498del;501T=]