Canonical Allele Identifier: PA091200
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98015
ClinVar RCV Id: RCV000084295 RCV000640610 RCV001199924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Tyr115Cys
CA225002
NM_000021.3:c.344A>G