Canonical Allele Identifier: PA2573159731
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385206
ClinVar RCV Id: RCV001871297 RCV003994347 RCV003989727 RCV003976248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Lys311Arg
CA7256861
NM_000021.3:c.932A>G