ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825880871
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000023249
RCV002313720
ClinVar Variation:
30314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Pro158Leu
CA020114
NM_001145102.2:c.473C>T