ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139717216
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_005893.1:p.Pro95Leu
CA392953922
NM_005902.4:c.284C>T