ClinGen Allele Registry
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Canonical Allele Identifier:
PA225190
Gene: PSEN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000012.1:p.Thr440del
NM_000021.3:c.1318_1320del
NM_000021.3:c.[1318_1320del;1323T>C]