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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000514908.1:p.Leu162del
ENST00000700273.1:c.[484C>A;489_491del]

ENST00000700273.1:c.484_486del

ENST00000700273.1:c.[484_486del;488T=]

ENST00000700273.1:c.[484_486del;489T>A]

ENST00000700273.1:c.[484_486del;489T>C]

ENST00000700273.1:c.[484_486del;489T=]