ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573227577
Gene: SKI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Thr461Ile
CA16896244
NM_003036.4:c.1382C>T