Allele Registry

Canonical Allele Identifier: PA2829713890

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000172095

ClinVar Variation:

191767

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg104Trp	CA237495 NM_007318.3:c.310C>T