Canonical Allele Identifier: CA706566246
Gene: CDKL1 HGNC NCBI

Linked Data

dbSNP Id: rs1424050041
MyVariant Identifiers: chr14:g.50877954G>A (hg19) chr14:g.50411236G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50411236G>A , CM000676.2:g.50411236G>A GRCh38
NC_000014.8:g.50877954G>A , CM000676.1:g.50877954G>A GRCh37
NC_000014.7:g.49947704G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356146.5:n.37-588C>T
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