Canonical Allele Identifier: PA225190
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98117
ClinVar RCV Id: RCV000084416 RCV002271337
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr440del
CA225189
NM_000021.3:c.1318_1320del