ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807322
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520167
ClinVar RCV Id:
RCV002315210
RCV002532812
RCV002466546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Leu76Pro
CA536350
NM_003036.4:c.227T>C