Allele Registry

Canonical Allele Identifier: PA237496

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000172095

ClinVar Variation:

191767

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg108Trp	CA237495 NM_000021.3:c.322C>T