ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573243481
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1496484
ClinVar RCV Id:
RCV002019214
RCV002407262
RCV003159226
RCV003475278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Ala274Val
CA402463386
NM_005359.6:c.821C>T