ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710631
Gene: SKI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ser480Leu
CA536713
NM_003036.4:c.1439C>T