ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336912
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216604
ClinVar RCV Id:
RCV000481584
RCV001369785
RCV002315629
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.His291Tyr
CA336910
NM_005359.6:c.871C>T