Canonical Allele Identifier: PA091137
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18155
ClinVar RCV Id: RCV000019785 RCV000517533 RCV000640606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ala431Glu
CA341492
NM_000021.3:c.1292C>A