Canonical Allele Identifier: PA2573159735
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360165
ClinVar RCV Id: RCV001864898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val361Leu
CA390305578
NM_000021.3:c.1081G>C