Canonical Allele Identifier: PA346594
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180476
ClinVar RCV Id: RCV000157425 RCV001097368 RCV001097369 RCV003398815
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Gln50Arg
CA346593
NM_000447.3:c.149A>G