Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA1139668320

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 689483

ClinVar RCV Id: RCV000850226

ClinVar Variation Id: 1298589

ClinVar RCV Id: RCV001726919

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu174del	CA915948844 NM_000021.3:c.517_519del CA2499222718 NM_000021.3:c.520_522del