Canonical Allele Identifier: PA2829714349
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18150
ClinVar RCV Id: RCV000019780 RCV000084580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Pro432Gln
CA225518
NM_007318.3:c.1295C>A