ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320076
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213689
ClinVar RCV Id:
RCV000542904
RCV001705117
RCV003372648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Arg357Gln
CA320075
NM_003036.4:c.1070G>A