ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324228
Gene: SKI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213680
ClinVar RCV Id:
RCV000199684
RCV003114354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003027.1:p.Ala718Gly
CA324227
NM_003036.4:c.2153C>G