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
ENSP00000514937.1:p.Phe82Leu
CA390303259
ENST00000700310.1:c.244T>C
CA390303271
ENST00000700310.1:c.246T>A
CA390303273
ENST00000700310.1:c.246T>G