ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812398
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520185
ClinVar RCV Id:
RCV001771837
RCV002315226
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Met374Lys
CA392958295
NM_005902.4:c.1121T>A