Canonical Allele Identifier: PA2829714065
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18149
ClinVar RCV Id: RCV000020085 RCV000019779 RCV000084335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Gly179Val
CA225061
NM_007318.3:c.536G>T