Allele Registry

Canonical Allele Identifier: PA225068

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084338

ClinVar Variation:

98051

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Gly206Val	CA225067 NM_000021.3:c.617G>T