Canonical Allele Identifier: PA091162
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98026
ClinVar RCV Id: RCV000084308 RCV001071503 RCV003993799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ile143Thr
CA225019
NM_000021.3:c.428T>C