ClinGen Allele Registry
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Canonical Allele Identifier:
PA225036
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000084319
ClinVar Variation:
98035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Trp165Gly
CA225035
NM_000021.3:c.493T>G