ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356025
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220793
ClinVar RCV Id:
RCV000205977
RCV000507645
RCV001589093
RCV002315636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala420Thr
CA350063
NM_003036.4:c.1258G>A