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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2573246615

Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360083

ClinVar RCV Id: RCV001864877

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005624.2:p.Lys493Asn	CA346366081 NM_005633.4:c.1479G>T CA346366082 NM_005633.4:c.1479G>C