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
ENSP00000450551.2:p.Glu326Asp
CA390305388
ENST00000556951.6:c.978G>C
CA390305389
ENST00000556951.6:c.978G>T