ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825880718
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213804
ClinVar RCV Id:
RCV000197105
RCV001525711
RCV003996914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Val29Ala
CA321543
NM_001145102.2:c.86T>C