Canonical Allele Identifier: PA2573159730
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441953
ClinVar RCV Id: RCV001968059
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Gln306His
CA390304916
NM_000021.3:c.918A>C
CA390304918
NM_000021.3:c.918A>T