Allele Registry

Canonical Allele Identifier: PA341528

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000020086

RCV000712874

RCV000818883

ClinVar Variation:

21028

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met233Val	CA341527 NM_000021.3:c.697A>G