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
ENSP00000514933.1:p.Thr116Ser
CA390304673
ENST00000700306.1:c.346A>T
CA390304677
ENST00000700306.1:c.347C>G