ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982289
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520184
ClinVar RCV Id:
RCV002315225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Ile41_Glu44del
CA658798394
NM_001145102.2:c.121_132del