Canonical Allele Identifier: PA091182
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18123
ClinVar RCV Id: RCV000019751 RCV001248367 RCV003105774
ClinVar Variation Id: 98028
ClinVar RCV Id: RCV000084310 RCV002247483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Met146Leu
CA225022
NM_000021.3:c.436A>T
CA341490
NM_000021.3:c.436A>C