ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741922637
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2893088
ClinVar RCV Id:
RCV003648824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Ser333Asn
CA7626702
NM_005585.5:c.998G>A