ClinGen Allele Registry
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Canonical Allele Identifier:
PA645474780
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240150
ClinVar RCV Id:
RCV000227385
RCV000572439
RCV002311352
RCV003475828
RCV003479073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Pro185Leu
CA8965829
NM_005359.6:c.554C>T