Canonical Allele Identifier: PA225120
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98081
ClinVar RCV Id: RCV000084372 RCV001261442 RCV002514496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro267Leu
CA225119
NM_000021.3:c.800C>T