Canonical Allele Identifier: PA2829714062
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98048
ClinVar RCV Id: RCV000084334 RCV000640607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ser174Pro
CA225059
NM_007318.3:c.520T>C