Canonical Allele Identifier: PA224986
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98006
ClinVar RCV Id: RCV000084283
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ile83_Met84del
CA224985
NM_000021.3:c.247_252del