ClinGen Allele Registry
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Canonical Allele Identifier:
PA3249449550
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Phe101Ser
CA390303582
NM_007318.3:c.302T>C