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
ENSP00000377712.3:p.Leu168Phe
CA390305199
ENST00000394157.7:c.504G>C
CA390305200
ENST00000394157.7:c.504G>T