ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195772
Gene: SKIC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
595838
ClinVar RCV Id:
RCV000731498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008860.4:p.Thr1157Met
CA3730065
NM_006929.5:c.3470C>T