Canonical Allele Identifier: CA963038085
Gene: CDKL1 HGNC NCBI

Linked Data

dbSNP Id: rs2035569569
gnomAD v3: 14-50411259-G-A
gnomAD v4: 14-50411259-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50411259G>A , CM000676.2:g.50411259G>A GRCh38
NC_000014.8:g.50877977G>A , CM000676.1:g.50877977G>A GRCh37
NC_000014.7:g.49947727G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356146.5:n.37-611C>T
Search 100 bp 5'
Search 100 bp 3'