ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319953
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213692
ClinVar RCV Id:
RCV000195594
RCV000227742
RCV000514089
RCV002315616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala399Val
CA319952
NM_003036.4:c.1196C>T