ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829714017
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000084321
ClinVar Variation:
98037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Leu162del
CA225038
NM_007318.3:c.484_486del