Canonical Allele Identifier: PA1139668320
Gene: PSEN1 HGNC NCBI

Linked Data

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000012.1:p.Leu174del
NM_000021.3:c.517_519del

NM_000021.3:c.[517_519del;521T=]

NM_000021.3:c.[517_519del;521T=;524T=]

NM_000021.3:c.[517_519del;521T=;525C=]

NM_000021.3:c.[517_519del;521T=;525C>T]

NM_000021.3:c.[517_519del;522G>A]

NM_000021.3:c.[517_519del;522G>A;524T=]

NM_000021.3:c.[517_519del;522G>A;525C=]

NM_000021.3:c.[517_519del;522G>A;525C>T]

NM_000021.3:c.[517_519del;522G>C]

NM_000021.3:c.[517_519del;522G>C;524T=]

NM_000021.3:c.[517_519del;522G>C;525C=]

NM_000021.3:c.[517_519del;522G>C;525C>T]

NM_000021.3:c.[517_519del;522G=]

NM_000021.3:c.[517_519del;522G=;524T=]

NM_000021.3:c.[517_519del;522G=;525C=]

NM_000021.3:c.[517_519del;522G=;525C>T]

NM_000021.3:c.[517_519del;522G>T]

NM_000021.3:c.[517_519del;522G>T;524T=]

NM_000021.3:c.[517_519del;522G>T;525C=]

NM_000021.3:c.[517_519del;522G>T;525C>T]

NM_000021.3:c.[517_519del;524T=]

NM_000021.3:c.[517_519del;525C=]

NM_000021.3:c.[517_519del;525C>T]

NM_000021.3:c.520_522del

NM_000021.3:c.[520_522del;524T=]

NM_000021.3:c.[520_522del;525C=]

NM_000021.3:c.[520_522del;525C>T]