Allele Registry

Canonical Allele Identifier: PA1139668320

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000850226

RCV001726919

ClinVar Variation:

689483

1298589

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu174del	CA915948844 NM_000021.3:c.517_519del CA2499222718 NM_000021.3:c.520_522del