ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825881673
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213796
ClinVar RCV Id:
RCV000198381
RCV000654797
RCV002485303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Ala117Thr
CA322888
NM_001145104.2:c.349G>A