ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645479183
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405561
ClinVar RCV Id:
RCV000469242
RCV001001936
RCV001507884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Arg373His
CA16614552
NM_005902.4:c.1118G>A