ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825880906
Gene: SMAD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
178706
ClinVar RCV:
RCV000157501
RCV000197902
RCV000660271
RCV001198563
RCV001798527
ClinVar Variation:
180524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138574.1:p.Arg182Gln
CA020135
NM_001145102.2:c.545G>A