Canonical Allele Identifier: PA2828325247
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143645
ClinVar RCV Id: RCV000133185

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.[Val119_Leu120del;Lys122_Lys126del]
CA270492
NM_001369391.2:c.356_376del