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: PA1139682751

Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 838401

ClinVar RCV Id: RCV001039941 RCV002479255 RCV003226997

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138574.1:p.Phe45Leu	CA062250 NM_001145102.2:c.133T>C CA392954329 NM_001145102.2:c.135C>G CA392954330 NM_001145102.2:c.135C>A