ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645384887
Gene: SKIC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008860.4:p.Ala565Val
CA3729560
NM_006929.5:c.1694C>T