Canonical Allele Identifier: PA2573159719
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505666
ClinVar RCV Id: RCV002004172 RCV003395351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Asp40del
CA7256678
NM_000021.3:c.118_120del