Canonical Allele Identifier: PA225064
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98049
ClinVar RCV Id: RCV000084336 RCV001857411
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Glu184Asp
CA225063
NM_000021.3:c.552A>C
CA390298887
NM_000021.3:c.552A>T