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: PA1139754989

Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 916950

ClinVar RCV Id: RCV001173154

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078853.2:p.Leu679Arg	CA361667214 NM_024577.4:c.2036T>G