Canonical Allele Identifier: PA091130
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98065
ClinVar RCV Id: RCV000084352 RCV000763347
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ala231Thr
CA225090
NM_000021.3:c.691G>A