ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499281200
Gene: KANSL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056258.1:p.Ser704Leu
CA8618655
NM_015443.4:c.2111C>T