ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460042
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213783
ClinVar RCV Id:
RCV000415635
RCV001178809
RCV002286712
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Pro47Gln
CA062258
NM_001145102.2:c.140C>A