Canonical Allele Identifier: PA1139668253
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 938776
ClinVar RCV Id: RCV001208063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro88Thr
CA390303294
NM_000021.3:c.262C>A