ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322060
Gene: SKI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197599
RCV001857722
RCV002399730
ClinVar Variation:
213676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Val525Ile
CA322059
NM_003036.4:c.1573G>A