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: PA2573243517

Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492182

ClinVar RCV Id: RCV001989205 RCV002268595

ClinVar Variation Id: 3074396

ClinVar RCV Id: RCV004013930

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.Gly299Arg	CA402463600 NM_005359.6:c.895G>A CA402463602 NM_005359.6:c.895G>C