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: PA2573082480

Gene: SMARCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303723

ClinVar RCV Id: RCV001764839 RCV001861061 RCV004040079

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003070.3:p.Val396Leu	CA399360940 NM_003079.5:c.1186G>T CA399360942 NM_003079.5:c.1186G>C