ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436876
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000486959
RCV000537023
RCV004023198
ClinVar Variation:
423663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Pro424Leu
CA536655
NM_003036.4:c.1271C>T