ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091187
Gene: PSEN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000012.1:p.Pro117Leu
NM_000021.3:c.350C>T