This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011535275.1:p.Phe173Leu
CA225055
XM_011536973.2:c.517T>C
CA390296354
XM_011536973.2:c.519T>A
CA390296359
XM_011536973.2:c.519T>G