ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674088
Gene: SMAD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
460530
ClinVar RCV Id:
RCV000558005
RCV000562603
RCV000764164
RCV001662542
RCV002311850
RCV003476248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005350.1:p.Val407Leu
CA8966026
NM_005359.6:c.1219G>C