Allele Registry

Canonical Allele Identifier: PA2829714129

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084340

RCV000640604

ClinVar Variation:

98053

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Gly205Val	CA225070 NM_007318.3:c.614G>T