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
ENSP00000377719.1:p.Leu178Phe
CA390296570
ENST00000394164.5:c.534G>C
CA390296573
ENST00000394164.5:c.534G>T