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
ENSP00000514940.1:p.Arg318Ser
CA390305337
ENST00000700313.1:c.954G>T
CA390305338
ENST00000700313.1:c.954G>C