Allele Registry

Canonical Allele Identifier: PA2829714041

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000850226

RCV001726919

ClinVar Variation:

689483

1298589

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu170del	CA915948844 NM_007318.3:c.505_507del CA2499222718 NM_007318.3:c.508_510del