ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829714127
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663536
ClinVar RCV Id:
RCV000821428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Gly205Glu
CA390299412
NM_007318.3:c.614G>A