ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506285
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288484
ClinVar RCV Id:
RCV000340307
RCV001342306
ClinVar Variation Id:
323794
ClinVar RCV Id:
RCV000513930
RCV000435502
RCV001080267
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180395.1:p.Gly203Arg
CA8619017
NM_001193466.2:c.607G>C
CA8619019
NM_001193466.2:c.607G>A