ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829714329
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Ile412Thr
CA390305937
NM_007318.3:c.1235T>C