Canonical Allele Identifier: PA915954211
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807140
ClinVar RCV Id: RCV000995206

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Leu435Val
CA390306067
NM_000021.3:c.1303C>G