ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436880
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263895
ClinVar RCV Id:
RCV000474123
RCV001711845
RCV002310889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala437Thr
CA536666
NM_003036.4:c.1309G>A