Canonical Allele Identifier: PA913191329
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 625849
ClinVar RCV Id: RCV000782176 RCV001196175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr119Ile
CA390304710
NM_000021.3:c.356C>T