Canonical Allele Identifier: PA2829714159
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98065
ClinVar RCV Id: RCV000084352 RCV000763347
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ala227Thr
CA225090
NM_007318.3:c.679G>A