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: PA645375931

Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424013

ClinVar RCV Id: RCV000478457 RCV000736268 RCV001865487

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Val150Met	CA16617077 NM_000447.3:c.448G>A