Canonical Allele Identifier: PA2829714355
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98117
ClinVar RCV Id: RCV000084416 RCV002271337
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Thr436del
CA225189
NM_007318.3:c.1306_1308del