Canonical Allele Identifier: PA145287
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 88673
ClinVar RCV Id: RCV000074360 RCV000160962 RCV000541839 RCV001261800 RCV002228175 RCV002311544 RCV002483120 RCV003398656 RCV003584539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005350.1:p.Arg496Cys
CA145285
NM_005359.6:c.1486C>T