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
ENSP00000514970.1:p.Lys310Asn
CA390305018
ENST00000700389.1:c.930G>C
CA390305020
ENST00000700389.1:c.930G>T