ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573240350
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1677452
ClinVar RCV Id:
RCV002224194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Lys40Arg
CA393202931
NM_005902.4:c.119A>G