Canonical Allele Identifier: PA2829714231
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18139
ClinVar RCV Id: RCV000019769 RCV001814004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg274Thr
CA127838
NM_007318.3:c.821G>C