Canonical Allele Identifier: PA1139668311
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872050
ClinVar RCV Id: RCV001092311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Trp165Leu
CA390295964
NM_000021.3:c.494G>T