ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825881336
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000539900
RCV000768094
ClinVar Variation:
477579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Pro219Ser
CA392956266
NM_001145103.2:c.655C>T