Canonical Allele Identifier: PA224986
Gene: PSEN1 HGNC NCBI

Linked Data

JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000012.1:p.Ile83_Met84del
NM_000021.3:c.247_252del

NM_000021.3:c.[247_252del;254T=]

NM_000021.3:c.[247_252del;255C>A]

NM_000021.3:c.[247_252del;255C=]

NM_000021.3:c.[247_252del;255C>G]

NM_000021.3:c.[247_252del;255C>T]