ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110111
Gene: PSEN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000438.2:p.Val148Ile
NM_000447.3:c.442G>A