Canonical Allele Identifier: PA658673823
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448146
ClinVar RCV Id: RCV000516919 RCV003480665
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro267Ala
CA390301959
NM_000021.3:c.799C>G