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: PA2825177062

Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 874475

ClinVar RCV Id: RCV001097460 RCV001097459

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Phe243Leu	CA1424618 NM_000447.3:c.729C>G CA345040749 NM_000447.3:c.727T>C CA345040761 NM_000447.3:c.729C>A