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: PA2825673192

Gene: SMARCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 652117

ClinVar RCV Id: RCV000807611

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001122316.1:p.Met43Ile	CA404054362 NM_001128844.1:c.129G>A CA404054364 NM_001128844.1:c.129G>C CA404054366 NM_001128844.1:c.129G>T