ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710385
Gene: SKI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala55Pro
CA536342
NM_003036.4:c.163G>C