ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506864
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392273
ClinVar RCV Id:
RCV000442828
RCV000697747
RCV002525488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180395.1:p.Thr1018Ile
CA8618394
NM_001193466.2:c.3053C>T