Canonical Allele Identifier: PA2829713854
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18153
ClinVar RCV Id: RCV000019783 RCV000084284
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Leu81Pro
CA127841
NM_007318.3:c.242T>C