ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319824
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213695
ClinVar RCV Id:
RCV000195482
RCV000638898
RCV002399731
RCV003456375
RCV003907725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala510Thr
CA319823
NM_003036.4:c.1528G>A