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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA1139690985

Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 872534

ClinVar RCV Id: RCV001093052

ClinVar Variation Id: 3075663

ClinVar RCV Id: RCV004017181

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Cys174Ser	CA404533738 NM_000435.3:c.521G>C CA404533744 NM_000435.3:c.520T>A