ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881659
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405562
ClinVar RCV Id:
RCV000476466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138576.1:p.Val108Ile
CA16614720
NM_001145104.2:c.322G>A