ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741921463
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848021
ClinVar RCV Id:
RCV003762719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Pro313His
CA402463708
NM_005359.6:c.938C>A