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: PA913197811

Gene: NSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 623190

ClinVar RCV Id: RCV001053071 RCV003232087

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_071900.2:p.Phe2122Leu	CA362320583 NM_022455.5:c.6364T>C CA362320595 NM_022455.5:c.6366T>G CA362320597 NM_022455.5:c.6366T>A