Canonical Allele Identifier: PA091186
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98012
ClinVar RCV Id: RCV000084291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe105Leu
CA224997
NM_000021.3:c.315T>G
CA390303576
NM_000021.3:c.313T>C
CA390303586
NM_000021.3:c.315T>A