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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000451915.1:p.Ile83_Met84del
ENST00000554131.5:c.247_252del

ENST00000554131.5:c.[247_252del;254T=]

ENST00000554131.5:c.[247_252del;255C>A]

ENST00000554131.5:c.[247_252del;255C=]

ENST00000554131.5:c.[247_252del;255C>G]

ENST00000554131.5:c.[247_252del;255C>T]