Canonical Allele Identifier: PA162130
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 41789
ClinVar RCV Id: RCV000034711 RCV000115884 RCV000122057 RCV000196842 RCV001507132 RCV002310998 RCV003315550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005350.1:p.Arg189Cys
CA162128
NM_005359.6:c.565C>T