ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668304
Gene: PSEN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Tyr159His
CA390305134
NM_000021.3:c.475T>C