ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825881137
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
993641
ClinVar RCV Id:
RCV001285334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Pro51Leu
CA392953922
NM_001145103.2:c.152C>T