ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913197116
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
619726
ClinVar RCV Id:
RCV000759349
RCV001066745
RCV002386320
RCV003472281
RCV003584738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ile228Val
CA402462635
NM_005359.6:c.682A>G