Allele Registry

Canonical Allele Identifier: PA2573055444

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001757375

ClinVar Variation:

1315928

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr74Ile	CA390303037 NM_000021.3:c.221C>T