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
ENSP00000514908.1:p.Ser166del
CA390296070
ENST00000700273.1:c.494C>A
CA390296072
ENST00000700273.1:c.494C>G
CA2580613716
ENST00000700273.1:c.495_497del