Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA346594

Gene: PSEN2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000438.2:p.Gln50Arg