Canonical Allele Identifier: PA916000346
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 800823
ClinVar RCV Id: RCV000985000

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005576.3:p.Arg342Cys
CA393201700
NM_005585.5:c.1024C>T