Canonical Allele Identifier: PA225058
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98047
ClinVar RCV Id: RCV000084333 RCV002513898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe177Ser
CA225057
NM_000021.3:c.530T>C