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
ENSP00000452128.1:p.His42Gln
CA390302577
ENST00000556533.5:c.126C>A
CA390302578
ENST00000556533.5:c.126C>G