ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320485
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213675
ClinVar RCV Id:
RCV000196080
RCV001326178
RCV002399729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Arg519His
CA320484
NM_003036.4:c.1556G>A