ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000346
Gene: SMAD6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800823
ClinVar RCV Id:
RCV000985000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005576.3:p.Arg342Cys
CA393201700
NM_005585.5:c.1024C>T