Canonical Allele Identifier: PA2829713835
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18157
ClinVar RCV Id: RCV000529477 RCV000019787 RCV000084281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ala75Val
CA224983
NM_007318.3:c.224C>T