Canonical Allele Identifier: PA091146
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18127
ClinVar RCV Id: RCV000640605 RCV000019755 RCV000084407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Cys410Tyr
CA225174
NM_000021.3:c.1229G>A