ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580102170
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2094397
ClinVar RCV Id:
RCV003021319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Phe118Val
CA390304689
NM_000021.3:c.352T>G