ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351851
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222819
ClinVar RCV Id:
RCV000208203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Glu118Lys
CA351850
NM_003036.4:c.352G>A