ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829714030
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002289018
RCV003097769
ClinVar Variation:
1709203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Ser166del
CA2580613716
NM_007318.3:c.495_497del