ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324428
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213697
ClinVar RCV Id:
RCV000199881
RCV000548962
RCV002315617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala540Val
CA324427
NM_003036.4:c.1619C>T