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: PA1139684420

Gene: SMARCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 947484

ClinVar RCV Id: RCV001218573 RCV002327512

ClinVar Variation Id: 2452858

ClinVar RCV Id: RCV003177632

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001122321.1:p.Lys1465Asn	CA404073675 NM_001128849.1:c.4395G>C CA404073678 NM_001128849.1:c.4395G>T