Canonical Allele Identifier: PA2829714216
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38297
ClinVar RCV Id: RCV000031858 RCV000084374 RCV000689465
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg265His
CA225122
NM_007318.3:c.794G>A