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: PA2825881177

Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 838401

ClinVar RCV Id: RCV001039941 RCV002479255 RCV003226997

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138575.1:p.Phe106Leu	CA062250 NM_001145103.2:c.316T>C CA392954329 NM_001145103.2:c.318C>G CA392954330 NM_001145103.2:c.318C>A