Canonical Allele Identifier: PA2825380266
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 547186
ClinVar RCV Id: RCV000659288 RCV002536338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Met448Ile
CA412360517
NM_001037343.2:c.1344G>A
CA412360518
NM_001037343.2:c.1344G>C
CA412360520
NM_001037343.2:c.1344G>T