Canonical Allele Identifier: PA2829714288
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100944
ClinVar RCV Id: RCV003014654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ser361Phe
CA390305605
NM_007318.3:c.1082C>T