ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139717102
Gene: SKIC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008860.4:p.Arg415Trp
CA3729403
NM_006929.5:c.1243C>T