Canonical Allele Identifier: PA2741901578
Gene: CDKL5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Trp195Cys
CA412353142
NM_003159.2:c.585G>C
CA412353143
NM_003159.2:c.585G>T