Canonical Allele Identifier: PA2829714176
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18125
ClinVar RCV Id: RCV000542870 RCV000019753 RCV000084361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ala242Glu
CA225104
NM_007318.3:c.725C>A