Allele Registry

Canonical Allele Identifier: PA225043

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084323

ClinVar Variation:

98039

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ile168del	CA225042 NM_000021.3:c.501_503del