ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436913
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432018
ClinVar RCV Id:
RCV001048400
RCV000498763
RCV003159606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala580Val
CA337957856
NM_003036.4:c.1739C>T