ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829624463
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1041562
ClinVar RCV Id:
RCV001345386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Val257Met
CA392956227
NM_005902.4:c.769G>A