Canonical Allele Identifier: PA2741830570
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826707
ClinVar RCV Id: RCV003639914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Val487Leu
CA415163239
NM_001110792.2:c.1459G>T
CA415163240
NM_001110792.2:c.1459G>C