Canonical Allele Identifier: PA2828814763
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_001366127.1:p.Gly203Arg
CA8619017
NM_001379198.1:c.607G>C
CA8619019
NM_001379198.1:c.607G>A