ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320944
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000196525
RCV000638888
RCV002426934
ClinVar Variation:
213701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Pro728Leu
CA320943
NM_003036.4:c.2183C>T