ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825881322
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
210279
ClinVar RCV:
RCV000200741
RCV000707738
ClinVar Variation:
213763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138575.1:p.Asp214His
CA325318
NM_001145103.2:c.640G>C