ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829714046
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98043
ClinVar RCV Id:
RCV000084328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Leu169Trp
CA225049
NM_007318.3:c.506T>G