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
ENSP00000452477.2:p.Glu180Asp
CA225063
ENST00000553599.6:c.540A>C
CA390298887
ENST00000553599.6:c.540A>T