ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323035
Gene: SKI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000198523
RCV000677641
RCV001266088
ClinVar Variation:
213684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Thr180Met
CA323034
NM_003036.4:c.539C>T