ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321950
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213679
ClinVar RCV Id:
RCV000807347
RCV001579938
RCV002426932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Arg714His
CA321949
NM_003036.4:c.2141G>A