Canonical Allele Identifier: PA915994783
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 827058
ClinVar RCV Id: RCV001059602 RCV002416307 RCV003478658
ClinVar Variation Id: 925520
ClinVar RCV Id: RCV001187496 RCV002393430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005350.1:p.Gln249Arg
CA402462950
NM_005359.6:c.746A>G
CA915951531
NM_005359.6:c.745_746delinsAG