Canonical Allele Identifier: PA2829714204
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98080
ClinVar RCV Id: RCV000084370 RCV000415376 RCV001387954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Pro260Leu
CA225117
NM_007318.3:c.779C>T