Canonical Allele Identifier: PA237496
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191767
ClinVar RCV Id: RCV000172095
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Arg108Trp
CA237495
NM_000021.3:c.322C>T