Canonical Allele Identifier: PA1139668424
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 853657
ClinVar RCV Id: RCV001058511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr440Asn
CA390306095
NM_000021.3:c.1319C>A