ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810601
Gene: KANSL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001180395.1:p.Leu822Val
NM_001193466.2:c.2464T>G