Canonical Allele Identifier: PA2741809096
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504614
ClinVar RCV Id: RCV003320398
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Arg278Gly
CA390302132
NM_000021.3:c.832A>G