ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436890
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229252
ClinVar RCV Id:
RCV000218491
RCV000535528
RCV002466469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Val486Ile
CA536715
NM_003036.4:c.1456G>A