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: PA172797

Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159299

ClinVar RCV Id: RCV000146801 RCV000879987 RCV002512581 RCV003231201

ClinVar Variation Id: 1727416

ClinVar RCV Id: RCV002325756 RCV003232608 RCV003896118

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071900.2:p.Leu1030Ser	CA172795 NM_022455.5:c.3089T>C CA2580074127 NM_022455.5:c.3089_3090delinsCT