Canonical Allele Identifier: PA091147
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18142
ClinVar RCV Id: RCV000019772 RCV000084286
ClinVar Variation Id: 2028849
ClinVar RCV Id: RCV002876347 RCV003222446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Cys92Ser
CA224989
NM_000021.3:c.275G>C
CA390303353
NM_000021.3:c.274T>A