ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA101585
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30149
ClinVar RCV Id:
RCV000023060
RCV000059734
RCV001852006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ile500Thr
CA128977
NM_005359.6:c.1499T>C