ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573251693
Gene: SKIC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428392
ClinVar RCV Id:
RCV001964865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008860.4:p.Arg1198Cys
CA3730095
NM_006929.5:c.3592C>T