Canonical Allele Identifier: PA091148
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18135
ClinVar RCV Id: RCV000019765 RCV000084300
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Glu120Asp
CA225009
NM_000021.3:c.360A>T
CA390304722
NM_000021.3:c.360A>C