ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499270851
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1053264
ClinVar RCV Id:
RCV001361586
RCV002447458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Pro313Thr
CA402463704
NM_005359.6:c.937C>A