Canonical Allele Identifier: PA2829714046
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98043
ClinVar RCV Id: RCV000084328

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Leu169Trp
CA225049
NM_007318.3:c.506T>G