ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA106067
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39262
ClinVar RCV:
RCV000023241
RCV000195645
RCV000699559
RCV002276569
ClinVar Variation:
30306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Arg287Trp
CA020130
NM_005902.4:c.859C>T