Allele Registry

Canonical Allele Identifier: PA3057348876

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV004759906

ClinVar Variation:

3360874

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ile433Phe	CA262620910 NM_007318.3:c.1297A>T