ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057728184
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Leu278Phe
CA390302255
NM_007318.3:c.832C>T