Canonical Allele Identifier: PA2825177040
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1100640
ClinVar RCV Id: RCV001423308 RCV002246384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.His169Asn
CA1424557
NM_000447.3:c.505C>A