Canonical Allele Identifier: PA225004
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98016
ClinVar RCV Id: RCV000084296 RCV002514493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr116Ile
CA225003
NM_000021.3:c.347C>T