Allele Registry

Canonical Allele Identifier: PA1139668228

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001261949

ClinVar Variation:

982376

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro88Arg	CA390303304 NM_000021.3:c.263C>G