Canonical Allele Identifier: CA2136187873
Community Standard Title: NC_000014.9:g.50411265A=
Gene: CDKL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50411265A= , CM000676.2:g.50411265A= GRCh38
NC_000014.8:g.50877983A= , CM000676.1:g.50877983A= GRCh37
NC_000014.7:g.49947733A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356146.5:n.37-617T=