Allele Registry

Canonical Allele Identifier: PA2829714161

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000020086

RCV000712874

RCV000818883

ClinVar Variation:

21028

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met229Val	CA341527 NM_007318.3:c.685A>G