Canonical Allele Identifier: PA091138
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_000012.1:p.Ala79Val
CA224983
NM_000021.3:c.236C>T