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
ENSP00000451347.1:p.Glu30Asp
CA390302504
ENST00000557037.5:c.90A>C
CA390302505
ENST00000557037.5:c.90A>T