ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825881122
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263428
ClinVar RCV Id:
RCV000246998
RCV000654790
RCV001027804
RCV001193563
RCV001582892
RCV002278226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Arg46His
CA10587871
NM_001145103.2:c.137G>A