ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474817
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421348
ClinVar RCV Id:
RCV000479880
RCV002230936
RCV003168958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Gly231Ala
CA8965889
NM_005359.6:c.692G>C