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
ENSP00000350342.4:p.Leu170del
CA390296164
ENST00000357710.8:c.503T>A
CA390296198
ENST00000357710.8:c.506T>A
CA915948844
ENST00000357710.8:c.505_507del
CA2499222718
ENST00000357710.8:c.508_510del