ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057721935
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005408522
ClinVar Variation:
3896100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Thr436Ala
CA390306094
NM_007318.3:c.1306A>G