Canonical Allele Identifier: PA091197
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 659639
ClinVar RCV Id: RCV000816670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr116Asn
CA390304675
NM_000021.3:c.347C>A