ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881180
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_001138575.1:p.Pro108Gln
CA062258
NM_001145103.2:c.323C>A