Canonical Allele Identifier: PA225062
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18149
ClinVar RCV Id: RCV000020085 RCV000019779 RCV000084335
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Gly183Val
CA225061
NM_000021.3:c.548G>T