ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323402
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213668
ClinVar RCV Id:
RCV000198871
RCV000436746
RCV000986220
RCV002315609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala388Val
CA323401
NM_003036.4:c.1163C>T