Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2580333404

Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1944590

ClinVar RCV Id: RCV002639850

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005576.3:p.Trp337Arg	CA393201667 NM_005585.5:c.1009T>A CA393201668 NM_005585.5:c.1009T>C