Canonical Allele Identifier: PA891844684
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 586385
ClinVar RCV Id: RCV000712872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe175Leu
CA390296241
NM_000021.3:c.523T>C
CA390296271
NM_000021.3:c.525C>A
CA390296275
NM_000021.3:c.525C>G