ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825881019
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2101483
ClinVar RCV Id:
RCV003037452
RCV003491192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Ser270Ile
CA392958302
NM_001145102.2:c.809G>T